NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics - Local Development build (v2.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
| Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicClinicalIndicationCodes | Version: 2.2.0 | ||||
| Draft as of 2026-09-20 | Computable Name: GenomicClinicalIndicationCodes | ||||
1st level classification of NHS England Genomic Test Directory codes
References
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication version 📦2.2.0
Expansion performed internally based on codesystem NHS England Genomic Clinical Indication Code v2.2.0 (CodeSystem)
This value set contains 597 concepts
| System | Code | Display (en) | JSON | XML |
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R14 | Acutely unwell children with a likely monogenic disorder | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R15 | Primary immunodeficiency or monogenic inflammatory bowel disease | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R16 | Severe combined immunodeficiency with adenosine deaminase deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R17 | Lymphoproliferative syndrome with absent SAP expression | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R18 | Haemophagocytic syndrome with absent XIAP expression | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R19 | Autoimmune lymphoproliferative syndrome with defective apoptosis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R20 | Wiskott-Aldrich syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R21 | Fetal anomalies with a likely genetic cause | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R22 | Fetus with a likely chromosomal abnormality | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R23 | Apert syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R24 | Achondroplasia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R25 | Thanatophoric dysplasia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R26 | Likely common aneuploidy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R27 | Paediatric disorders | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R28 | Congenital malformation and dysmorphism syndromes | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R31 | Bilateral congenital or childhood onset cataracts | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R32 | Retinal disorders | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R33 | Possible X-linked retinitis pigmentosa | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R36 | Structural eye disease | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R38 | Sporadic aniridia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R39 | Albinism or congenital nystagmus | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R41 | Optic neuropathy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R42 | Leber hereditary optic neuropathy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R43 | Blepharophimosis ptosis and epicanthus inversus | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R45 | Stickler syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R46 | Congenital fibrosis of the extraocular muscles | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R47 | Angelman syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R48 | Prader-Willi syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R49 | Beckwith-Wiedemann syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R50 | Isolated hemihypertrophy or macroglossia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R52 | Short stature - SHOX deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R54 | Hereditary ataxia with onset in adulthood | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R55 | Hereditary ataxia with onset in childhood | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R56 | Adult onset dystonia, chorea or related movement disorder | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R57 | Childhood onset dystonia, chorea or related movement disorder | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R60 | Adult onset hereditary spastic paraplegia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R61 | Childhood onset hereditary spastic paraplegia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R62 | Adult onset leukodystrophy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R63 | Possible mitochondrial disorder - nuclear genes | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R64 | MELAS or MIDD | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R65 | Aminoglycoside exposure posing risk to hearing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R66 | Paroxysmal central nervous system disorders | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R67 | Monogenic hearing loss | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R68 | Huntington disease | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R69 | Hypotonic infant | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R70 | Spinal muscular atrophy type 1 diagnostic test | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R71 | Spinal muscular atrophy type 1 rare variant testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R72 | Myotonic dystrophy type 1 | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R73 | Duchenne or Becker muscular dystrophy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R74 | Facioscapulohumeral muscular dystrophy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R75 | Oculopharyngeal muscular dystrophy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R76 | Skeletal muscle channelopathy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R77 | Hereditary neuropathy - PMP22 copy number | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R78 | Hereditary neuropathy or pain disorder | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R79 | Congenital muscular dystrophy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R80 | Congenital myaesthenic syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R81 | Congenital myopathy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R82 | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R83 | Arthrogryposis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R84 | Cerebellar anomalies | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R85 | Holoprosencephaly - NOT chromosomal | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R86 | Hydrocephalus | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R87 | Cerebral malformation | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R88 | Severe microcephaly | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R89 | Ultra-rare and atypical monogenic disorders | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R90 | Bleeding and platelet disorders | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R91 | Cytopenia - NOT Fanconi anaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R92 | Rare anaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R93 | Sickle cell, thalassaemia and other haemoglobinopathies | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R95 | Iron overload - hereditary haemochromatosis testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R96 | Iron metabolism disorders - NOT common HFE variants | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R97 | Thrombophilia with a likely monogenic cause | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R98 | Likely inborn error of metabolism | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R99 | Common craniosynostosis syndromes | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R100 | Rare syndromic craniosynostosis or isolated multisuture synostosis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R101 | Ehlers Danlos syndrome with a likely monogenic cause | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R102 | Osteogenesis imperfecta | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R104 | Skeletal dysplasia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R105 | MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – common variant newborn screening follow up | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R106 | Alstrom syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R107 | Bardet Biedl syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R109 | Childhood onset leukodystrophy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R110 | Segmental overgrowth disorders - Deep sequencing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R111 | X-inactivation testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R112 | Factor II deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R115 | Factor V deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R116 | Factor VII deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R117 | Factor VIII deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R118 | Factor IX deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R119 | Factor X deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R120 | Factor XI deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R121 | von Willebrand disease | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R122 | Factor XIII deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R123 | Combined vitamin K-dependent clotting factor deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R124 | Combined factor V and VIII deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R125 | Thoracic aortic aneurysm or dissection | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R127 | Long QT syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R128 | Brugada syndrome and cardiac sodium channel disease | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R129 | Catecholaminergic polymorphic VT | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R130 | Short QT syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R131 | Hypertrophic cardiomyopathy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R132 | Dilated and Arrhythmogenic cardiomyopathy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R133 | Arrhythmogenic right ventricular cardiomyopathy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R134 | Familial hypercholesterolaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R135 | Paediatric or syndromic cardiomyopathy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R136 | Primary lymphoedema | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R137 | Congenital heart disease - microarray | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R138 | Sudden unexplained death or survivors of a cardiac event | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R139 | Laterality disorders and isomerism | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R140 | Elastin-related phenotypes | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R141 | Monogenic diabetes | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R142 | Glucokinase-related fasting hyperglycaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R143 | Neonatal diabetes | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R144 | Congenital hyperinsulinism | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R145 | Congenital hypothyroidism | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R146 | Differences in sex development | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R148 | Hypogonadotropic hypogonadism | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R149 | Severe early-onset obesity | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R150 | Congenital adrenal hypoplasia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R151 | Familial hyperparathyroidism or Hypocalciuric hypercalcaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R153 | Familial hypoparathyroidism | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R154 | Hypophosphataemia or rickets | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R155 | Autoimmune Polyendocrine Syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R156 | Carney complex | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R157 | IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R158 | Severe insulin resistance and lipodystrophy syndromes | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R159 | Pituitary hormone deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R160 | Primary pigmented nodular adrenocortical disease | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R162 | Familial tumoral calcinosis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R163 | Ectodermal dysplasia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R164 | Epidermolysis bullosa and congenital skin fragility | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R165 | Ichthyosis and erythrokeratoderma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R166 | Palmoplantar keratodermas | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R167 | Autosomal recessive primary hypertrophic osteoarthropathy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R168 | Non-acute porphyrias | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R169 | Acute intermittent porphyria | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R170 | Variegate porphyria | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R171 | Cholestasis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R172 | Wilson disease | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R173 | Polycystic liver disease | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R175 | Pancreatitis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R176 | Gilbert syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R180 | Congenital adrenal hyperplasia diagnostic test | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R181 | Congenital adrenal hyperplasia carrier testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R182 | Hyperthyroidism | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R183 | Glucocorticoid-remediable aldosteronism (GRA) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R184 | Cystic fibrosis diagnostic test | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R185 | Cystic fibrosis carrier testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R186 | Hereditary haemorrhagic telangiectasia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R188 | Pulmonary arterial hypertension | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R189 | Respiratory ciliopathies including non-CF bronchiectasis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R190 | Pneumothorax - familial | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R191 | Alpha-1-antitrypsin deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R193 | Cystic renal disease | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R194 | Haematuria | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R195 | Proteinuric renal disease | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R196 | CFHR5 nephropathy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R197 | Membranoproliferative glomerulonephritis including C3 glomerulopathy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R198 | Renal tubulopathies | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R199 | Congenital anomalies of the kidney and urinary tract - familial | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R201 | Atypical haemolytic uraemic syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R202 | Tubulointerstitial kidney disease | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R204 | Hereditary Systemic Amyloidosis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R207 | Inherited ovarian cancer (without breast cancer) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R208 | Inherited breast cancer and ovarian cancer | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R210 | Inherited MMR deficiency (Lynch syndrome) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R211 | Inherited polyposis and early onset colorectal cancer - germline testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R212 | Peutz Jeghers Syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R213 | PTEN Hamartoma Tumor Syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R214 | Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R215 | Hereditary diffuse gastric cancer | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R216 | Li Fraumeni Syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R217 | Endocrine neoplasia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R218 | Multiple endocrine neoplasia type 2 | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R219 | Retinoblastoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R221 | Familial tumours of the nervous system | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R222 | Neurofibromatosis type 1 | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R223 | Inherited phaeochromocytoma and paraganglioma excluding NF1 | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R224 | Inherited renal cancer | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R225 | Von Hippel Lindau syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R226 | Inherited parathyroid cancer | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R227 | Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R228 | Tuberous sclerosis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R229 | Confirmed Fanconi anaemia or Bloom syndrome - variant testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R230 | Multiple monogenic benign skin tumours | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R231 | Neuronal ceroid lipofuscinosis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R232 | Haemophagocytic syndrome with absent perforin expression | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R233 | Agammaglobulinaemia with absent BTK expression | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R234 | Severe combined immunodeficiency with PNP deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R235 | SCID with features of gamma chain deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R236 | Pigmentary skin disorders | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R237 | Cutaneous photosensitivity with a likely genetic cause | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R239 | Incontinentia pigmenti | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R240 | Diagnostic testing for known variant(s) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R242 | Predictive testing for known familial variant(s) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R244 | Carrier testing for known familial variant(s) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R246 | Carrier testing at population risk for partners of known carriers of nationally agreed autosomal recessive disorders | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R249 | NIPD using paternal exclusion testing for very rare conditions where familial variant is known | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R250 | NIPD for congenital adrenal hyperplasia - CYP21A2 haplotype testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R251 | Non-invasive prenatal sexing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R252 | SMA carrier testing at population risk for partners of known carriers | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R253 | Cystic fibrosis newborn screening follow-up | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R254 | Familial melanoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R255 | Epidermodysplasia verruciformis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R256 | Nephrocalcinosis or nephrolithiasis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R257 | Unexplained young onset end-stage renal disease | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R258 | Cytopenia - Fanconi breakage testing indicated | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R259 | Nijmegen breakage syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R260 | Fanconi anaemia or Bloom syndrome - chromosome breakage testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R262 | Corneal dystrophy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R263 | Confirmation of uniparental disomy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R264 | Identity testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R265 | Chromosomal mosaicism - karyotype | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R268 | Kagami-Ogata syndrome - paternal uniparental disomy 14 | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R270 | Smith-Lemli-Opitz syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R271 | Neuronal ceroid lipofuscinosis type 2 | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R272 | Gaucher disease | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R273 | Glycogen storage disease V | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R274 | Glycogen storage disease | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R275 | Glutaric acidaemia I newborn screening follow up | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R276 | Lysosomal storage disorder | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R277 | Mucopolysaccharidosis type IH/S | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R278 | Mucopolysaccharidosis type II | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R279 | Isovaleric acidaemia newborn screening follow up | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R280 | Krabbe disease – GALC deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R281 | Krabbe disease - Saposin A deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R282 | Niemann-Pick disease type A or B | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R283 | Phenylketonuria | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R285 | Sandhoff disease | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R286 | Tay-Sachs disease | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R287 | Mucopolysaccharidosis type IVA | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R288 | GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R289 | Mucolipidosis II and III Alpha/Beta | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R290 | Mucopolysaccharidosis type VI | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R291 | Mucopolysaccharidosis type IIIA | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R292 | Mucopolysaccharidosis type IIIB | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R293 | Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R294 | Ataxia telangiectasia - DNA repair testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R295 | Ataxia telangiectasia - variant testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R296 | RNA analysis of variants | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R298 | Possible structural or mosaic chromosomal abnormality - FISH | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R299 | Possible mitochondrial disorder - mitochondrial DNA rearrangement testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R300 | Possible mitochondrial disorder - whole mitochondrial genome sequencing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R301 | Possible mitochondrial disorder - mitochondrial DNA depletion testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R304 | NIPD for cystic fibrosis - haplotype testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R305 | NIPD for cystic fibrosis - variant testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R306 | NIPD for Apert syndrome - variant testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R307 | NIPD for Crouzon syndrome with acanthosis nigricans - variant testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R308 | NIPD for FGFR2-related craniosynostosis syndromes - variant testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R309 | NIPD for FGFR3-related skeletal dysplasias - variant testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R310 | NIPD for Duchenne and Becker muscular dystrophy - haplotype testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R311 | NIPD for spinal muscular atrophy - variant testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R312 | Parental sequencing for lethal autosomal recessive disorders | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R313 | Neutropaenia consistent with ELANE variants | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R314 | Ambiguous genitalia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R315 | POLG-related disorder | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R316 | Pyruvate dehydrogenase (PDH) deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R317 | Mitochondrial liver disease, including transient infantile liver failure | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R318 | Recurrent miscarriage with products of conception available for testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R319 | Calcium-sensing receptor phenotypes | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R320 | Invasive prenatal diagnosis requiring fetal sexing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R321 | Maternal cell contamination testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R322 | Skin fibroblasts to be cultured and stored | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R323 | Sitosterolaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R324 | Familial Chylomicronaemia Syndrome (FCS) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R325 | Lysosomal acid lipase deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R326 | Vascular skin disorders | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R327 | Mosaic skin disorders - deep sequencing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R328 | Progressive cardiac conduction disease | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R329 | Familial dysalbuminaemic hyperthyroxinaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R330 | Alveolar capillary dysplasia with misalignment of pulmonary veins | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R331 | Intestinal failure or congenital diarrhoea | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R332 | Rare genetic inflammatory skin disorders | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R333 | Central congenital hypoventilation | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R334 | Cystinosis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R335 | Fabry disease | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R336 | Cerebral vascular malformations | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R337 | CADASIL | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R338 | Monitoring for G(M)CSF escape variants | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R340 | Amelogenesis imperfecta | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R341 | Hereditary angioedema types I and II | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R343 | Chromosomal mosaicism - microarray | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R344 | Primary hyperaldosteronism - KCNJ5 | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R345 | Facioscapulohumeral muscular dystrophy - extended testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R346 | DNA to be stored | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R347 | Inherited predisposition to acute myeloid leukaemia (AML) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R350 | MERRF syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R351 | NARP syndrome or maternally inherited Leigh syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R352 | Mitochondrial DNA maintenance disorder | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R353 | Mitochondrial disorder with complex I deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R354 | Mitochondrial disorder with complex II deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R355 | Mitochondrial disorder with complex III deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R356 | Mitochondrial disorder with complex IV deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R357 | Mitochondrial disorder with complex V deficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R361 | Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R363 | Inherited predisposition to GIST | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R364 | DICER1-related cancer predisposition | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R365 | Fumarate hydratase-related tumour syndromes | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R366 | Inherited susceptibility to acute lymphoblastoid leukaemia (ALL) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R367 | Inherited pancreatic cancer | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R368 | Hereditary angioedema type III | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R370 | Validation of unaccredited findings | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R371 | Malignant hyperthermia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R372 | Newborn screening for sickle cell disease in a transfused baby | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R373 | RNA to be stored | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R374 | Other sample to be stored | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R375 | Family follow-up testing to aid variant interpretation | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R376 | Segmental or atypical neurofibromatosis type 1 testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R380 | Niemann Pick disease type C | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R381 | Other rare neuromuscular disorders | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R382 | Hypochondroplasia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R383 | Linkage testing for Huntington disease | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R384 | Generalised arterial calcification in infancy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R387 | Reanalysis of existing data | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R389 | NIPD - pre-pregnancy test work-up | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R390 | Multiple exostoses | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R391 | Barth syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R394 | Mitochondrial neurogastrointestinal encephalopathy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R395 | Thiamine metabolism dysfunction syndrome 2 | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R396 | Mitochondrial Complex V deficiency, TMEM70 type | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R397 | Maternally inherited cardiomyopathy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R401 | Common aneuploidy testing - prenatal | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R402 | Premature ovarian insufficiency | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R403 | MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R404 | Testing of unaffected individuals for inherited cancer predisposition syndromes | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R405 | Hereditary Erythrocytosis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R406 | Thrombocythaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R409 | Linkage testing for other recognisable Mendelian disorders | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R410 | Myotonic dystrophy type 2 (DM2) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R411 | Y chromosome microdeletion | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R412 | Fetal anomalies with a likely genetic cause - non urgent | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R413 | Autoinflammatory Disorders | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R414 | APC associated Polyposis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R416 | Syndromic and non syndromic craniosynostosis involving midline sutures | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R417 | Multi Locus Imprinting Disorder (MLID) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R419 | Acute Rhabdomyolysis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R420 | Pseudoxanthoma elasticum | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R421 | Pulmonary Fibrosis, Familial | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R422 | BAP1 associated tumour predisposition syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R423 | NIPD for Retinoblastoma - haplotype testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R424 | Subcutaneous panniculitis T-cell lymphoma (SPTCL) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R426 | Pulmonary alveolar microlithiasis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R428 | Patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R430 | Inherited prostate cancer | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R431 | Genome-wide DNA Methylation Profiling to Aid Variant Interpretation | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R433 | Monogenic diabetes, subtype glucokinase - NIPT | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R436 | Hereditary alpha tryptasaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R438 | Paediatric pseudo-obstruction syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R440 | Hereditary isolated diabetes insipidus | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R441 | Unexplained death in infancy and sudden unexplained death in childhood | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R442 | Variant re-interpretation | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R443 | Confirmation test | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R444 | NICE approved PARP inhibitor treatment | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R445 | T21, T18 and T13 aneuploidy testing - NIPT (previous history) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R446 | APOL1 kidney donor testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R447 | Validation of WGS Diagnostic discovery | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R448 | Prenatal testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R449 | Diagnostic testing for Glutaric acidaemia I | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R450 | Diagnostic testing for Isovaleric acidaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R451 | Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R452 | Silver russell syndrome and Temple Syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R453 | Monogenic short stature | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R454 | Mavacamten for treating symptomatic obstructive hypertrophic cardiomyopathy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R456 | Embryonal tumour of possible germline origin | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R457 | Sarcoma of possible germline origin | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R458 | Young onset or familial dementia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R459 | Young onset or complex Parkinson disease | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R460 | Amyotrophic lateral sclerosis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R461 | Cerebral amyloid angiopathy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R462 | Childhood interstitial lung disease | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R463 | Cytogenetic characterisation of a genomic abnormality – Karyotype or Targeted Chromosome Analysis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R464 | Recurrent miscarriage where products of conception are not available for testing - parental karyotype | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R465 | Familial cytogenetic rearrangement - Karyotype or Targeted Chromosome Analysis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R466 | Unexplained infertility - karyotype | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R467 | Gamete donors - karyotype | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R468 | Possible sex chromosome aneuploidy or structural rearrangement – Targeted Chromosome Analysis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R470 | T21, T18, and T13 aneuploidy testing - NIPT NHS Fetal Anomaly Screening Programme (FASP) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R471 | Neurodegenerative Disorders, adult onset – Prenatal Exclusion Testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M1 | Colorectal Carcinoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M2 | Ovarian Carcinoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M3 | Breast Cancer | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M4 | Non-Small Cell Lung Cancer | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M5 | Mesothelioma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M6 | Mucoepidermoid Carcinoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M7 | Melanoma - Adult | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M8 | Gastrointestinal Stromal Tumour | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M9 | Thyroid Papillary Carcinoma - Adult | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M10 | Thyroid Follicular Carcinoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M11 | Poorly Differentiated Anaplastic Thyroid Carcinoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M12 | Thyroid Medullary Carcinoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M13 | Phaeochromocytoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M14 | Adrenal Cortical Carcinoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M15 | Head and Neck Squamous Cell Carcinoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M16 | Adenoid Cystic Carcinoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M17 | Secretory Carcinoma (Salivary Gland) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M18 | Renal Cell Carcinoma - Adult | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M42 | Alveolar Rhabdomyosarcoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M43 | Alveolar Soft Part Sarcoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M44 | Aneurysmal Bone Cyst | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M45 | Angiomatoid Fibrous Histiocytoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M46 | Chondrosarcoma Conventional Central | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M47 | Chondroblastoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M48 | Clear Cell Sarcoma of Soft Tissue | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M49 | CNS Ewing Sarcoma Family Tumour With CIC Alteration | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M50 | Dermatofibrosarcoma Protuberans | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M51 | Desmoid-Type Fibromatosis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M52 | Desmoplastic Small Round Cell Tumour | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M53 | Endometrial Stromal Sarcoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M54 | Epithelioid Haemangioendothelioma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M55 | Ewing Like Sarcoma/PNET | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M56 | Ewing Sarcoma of Bone | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M57 | Ewing-Like Soft-Tissue Sarcoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M58 | Extraskeletal Myxoid Chondrosarcoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M59 | Fibrous Dysplasia/Myxomas (Mazabraud Syndrome) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M60 | Giant Cell Tumour of Bone | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M61 | High-Grade Neuroepithelial Tumour-Bcor Group | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M62 | Infantile Fibrosarcoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M63 | Inflammatory Myofibroblastic Tumour | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M64 | Low Grade Fibromyxoid Sarcoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M65 | Mesenchymal Chondrosarcoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M66 | Myoepithelial Tumours of Soft Tissue | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M67 | Myxoid/Round Cell Liposarcoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M68 | Myxoinflammatory Fibroblastic Sarcoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M69 | Nodular Fasciitis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M70 | Osteosarcoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M71 | Phosphaturic Mesenchymal Tumour | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M72 | Primitive Mesenchymal Myxoid Tumour of Infancy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M73 | Pseudomyogenic Haemangioendothelioma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M74 | Radiation Induced Angiosarcoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M75 | Round Cell Sarcoma Nos | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M76 | Sclerosing Epithelioid Fibrosarcoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M77 | Synovial Sarcoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M78 | Undifferentiated Round Cell Sarcoma of Infancy | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M79 | Well Differentiated/Dedifferentiated Liposarcoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M119 | Paediatric Tumours | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M124 | Clear Cell Kidney Sarcoma - Paediatric | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M127 | Congenital Mesoblastic Nephroma - Paediatric | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M131 | Cystic Nephroma - Paediatric | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M143 | Lung - Paediatric | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M149 | Melanotic Tumours - Paediatric | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M151 | Midline Carcinoma - Paediatric | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M152 | Neuroblastoma - Paediatric | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M157 | Thyroid Papillary Carcinoma - Paediatric | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M161 | Pleuropulmonary Blastoma - Paediatric | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M165 | Renal Tumours - Paediatric | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M166 | Retinoblastoma - Paediatric | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M167 | Rhabdoid Tumours - Paediatric | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M173 | t(6;11) Translocation-Associated Renal Cell Carcinoma - Paediatric | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M174 | Testicular - Paediatric | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M178 | Wilms Tumours - Paediatric | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M180 | Xp11.2 Translocation-Associated Renal Cell Carcinoma - Paediatric | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M187 | Uveal melanoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M196 | Bone Forming Soft Tissue Tumour Differential | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M197 | Round Cell Sarcoma of Soft Tissue Differential | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M198 | Vascular Soft Tissue Tumour Differential | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M199 | Spindle Cell Soft Tissue Tumour Differential | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M200 | Myxoid Soft Tissue Tumour Differential | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M201 | Adipocytic Soft Tissue Tumour Differential | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M202 | Epithelioid Soft Tissue Tumour Differential | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M203 | Uterine Sarcomas (Inc Endometrial) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M204 | Undifferentiated tumour | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M205 | Cartilage Forming Bone Tumour Differential | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M206 | Bone Forming Bone Tumour Differential | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M207 | Osteoclast-Rich Bone Tumour Differential | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M208 | Round Cell Sarcoma of Bone Differential | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M209 | Vascular Tumour of Bone Differential | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M210 | Spindle Cell Tumour of Bone Differential | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M211 | Fibro-Osseous Tumour of Bone Differential | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M212 | Renal Tumour Differential - Paediatric | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M215 | Endometrial Cancer | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M217 | Urothelial Carcinoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M218 | Prostate Cancer | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M219 | Pancreatic Cancer | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M220 | Cholangiocarcinoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M221 | Spitzoid tumour | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M222 | Hepatocellular carcinoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M226 | Carcinoma of Unknown Primary | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M227 | Solid tumour other (i.e. specific histology not listed elsewhere in the test directory) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M231 | Small cell lung cancer | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M232 | Solid Tumour Exhausted all Standards of Care Testing and Treatment- Adult | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M233 | High Grade Ovarian Carcinoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M234 | Triple Negative Breast Cancer | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M236 | Oesophageal Cancer | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M237 | Gastric Cancer | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M238 | Small Bowel Cancer | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M239 | Thyroid Hurtle Cell Carcinoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M240 | Non-invasive follicular thyroid neoplasm with papillary like nuclei | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M241 | Conjunctival melanoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M242 | Any patient receiving solid organ transplantation (only in cases where passenger lymphocyte syndrome is suspected) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M243 | Thymic Carcinoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M244 | In all tumours eligible for NTRK1/2/3 testing | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M245 | Ovarian sex cord stromal tumours | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M20 | Anaplastic Astrocytoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M21 | Astrocytoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M22 | Diffuse Astrocytoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M23 | Diffuse Midline Glioma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M24 | Embryonal Tumours with Multi-Layered Rosettes | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M25 | Ependymoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M26 | Ependymoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M27 | Glioblastoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M28 | Glioma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M29 | High Grade Glioma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M30 | IDH-Wildtype Glioblastoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M31 | Low Grade Glioma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M32 | Low Grade Glioma/Glioneuronal Tumours | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M33 | Meningioma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M34 | Non-Midline Glioma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M35 | OligodendroGlioma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M36 | Pilocytic Astrocytoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M37 | Pineoblastoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M38 | Pituitary Tumours | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M39 | Rare Primitive Neuroectodermal Tumours Groups 2/3 | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M80 | Acute Myeloid Leukaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M81 | Transient Abnormal Myelopoiesis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M82 | Myelodysplasia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M83 | Aplastic Anaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M84 | Chronic Myeloid Leukaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M85 | Myeloproliferative Neoplasm | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M86 | Systemic Mastocytosis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M87 | Chronic Neutrophilic Leukaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M88 | Juvenile Myelomonocytic Leukaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M89 | Acute Leukaemia Other | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M90 | Blastic Plasmacytoid Dendritic Cell Neoplasm | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M91 | Acute Lymphoblastic Leukaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M92 | Plasma Cell Dyscrasia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M93 | Lymphoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M94 | Chronic Lymphocytic Leukaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M95 | B cell Non-Hodgkin Lymphoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M96 | Burkitt Lymphoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M97 | Burkitt Like Lymphoma with 11q Abnormalities | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M98 | Large B Cell Like Lymphoma with IRF4 Rearrangement | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M99 | High Grade Lymphoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M100 | Primary Mediastinal B Cell Lymphoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M101 | ALK Positive Large B Cell Lymphoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M102 | Mantle Cell Lymphoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M103 | Follicular Lymphoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M104 | Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M105 | Igm Monoclonal Gammopathy of Uncertain Significance | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M106 | Intra-Ocular Lymphoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M107 | Malt-Lymphoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M108 | Hairy Cell Leukaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M109 | Hairy Cell Leukaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M110 | Paediatric Type Follicular Lymphoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M111 | T Cell Non-Hodgkin Lymphoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M112 | ALK Negative Anaplastic Large Cell Lymphoma (Including Primary Cutaneous Subtypes) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M113 | T Prolymphocytic Leukaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M114 | Large Granular Lymphocyte Leukaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M115 | NK Cell/Gamma-Delta T Cell Lymphoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M116 | Hepatosplenic T Cell Lymphoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M117 | Histiocytosis | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M118 | Any patient undergoing Allogeneic Haematopoietic Stem Cell transplantation | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M120 | Atypical Teratoid/Rhabdoid Tumour | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M126 | CNS High-Grade Neuroepithelial Tumour with MN1 Alteration | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M130 | Cribriform Neuroepithelial Tumour | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M132 | Desmoplastic Infantile Gangliogliomas | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M133 | Desmoplastic Medulloblastoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M136 | Fibrolamellar Hepatocellular Carcinoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M137 | Ganglioglioma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M138 | Glial Tumours | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M139 | Glioblastoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M145 | Medulloblastoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M146 | Medulloblastoma Group 3 | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M147 | Medulloblastoma Group 3/4 | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M148 | Medulloblastoma TP53 WT | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M150 | Meningioma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M153 | Nodular Brain Tumour | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M155 | Oligoastrocytoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M156 | Oligodendroglioma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M158 | Pilocytic Astrocytoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M159 | Pituitary Blastoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M160 | Pleomorphic Xanthoastrocytoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M162 | Primitive Neuroectodermal Tumours | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M168 | Rosette-Forming Glioneuronal Tumour | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M169 | Secondary Glioblastoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M170 | SHH Medulloblastoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M171 | SHH Medulloblastoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M172 | SHH Medulloblastoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M179 | WNT Medulloblastoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M181 | Hairy Cell Leukaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M182 | ALK Positive Anaplastic Large Cell Lymphoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M183 | Diffuse Midline Glioma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M184 | Glioma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M185 | High Grade Glioma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M186 | Low Grade Glioma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M189 | Brain Tumour | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M190 | Embryonal Tumour Differential | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M191 | Low Grade Intrinsic Brain Tumour Differential | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M192 | High Grade Intrinsic Brain Tumour Differential | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M193 | Unable To Grade Intrinsic Brain Tumour | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M194 | Medulloblastoma all Subtypes | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M195 | Craniopharyngioma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M213 | Glial and Glioneuronal Tumour Differential | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M224 | MDS/MPN | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M225 | Suspected Lymphoma | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M235 | Proven or Suspected Haematological Tumours Exhausted all Standard of Care Testing and Treatment | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R94 | Not present in 8.0 | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R362 | Not present in 8.0 |