North West Genomic Medicine Service Alliance
0.0.7 - ci-build United Kingdom flag

North West Genomic Medicine Service Alliance, published by NHS North West GMSA. This guide is not an authorized publication; it is the continuous build for version 0.0.7 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/R4/ and changes regularly. See the Directory of published versions

CodeSystem: Genomic Condition Code

Official URL: https://nw-gmsa.github.io/CodeSystem/GenomicConditionCode Version: 0.0.7
Draft as of 2025-05-08 Computable Name: GenomicConditionCode

2nd level Genomic Test Directory Codes

This Code system is referenced in the content logical definition of the following value sets:

This case-sensitive code system https://nw-gmsa.github.io/CodeSystem/GenomicConditionCode provides a fragment that includes following codes:

CodeDisplay
R361 Childhood onset hereditary spastic paraplegia
R362 Not present in 8.0
R372 Newborn screening for sickle cell disease in a transfused baby
R93 Sickle cell, thalassaemia and other haemoglobinopathies
R94 Not present in 8.0
R413 Autoinflammatory Disorders
R67 Monogenic hearing loss
R141 Monogenic diabetes
R142 Glucokinase-related fasting hyperglycaemia
R201 Atypical haemolytic uraemic syndrome
M9 Thyroid Papillary Carcinoma - Adult
M215 Endometrial Cancer