Genetic syndrome related diabetes codes
Metadata
- Coding system
 - SNOMED CT (UK Clinical Edition)
 - Coding system release
 - 41.0.0
 - Organisation
 - NHSD Primary Care Domain Refsets
 - Codelist ID
 - nhsd-primary-care-domain-refsets/genetsyndm_cod
 - Version Tag
 - 20250912
 - Version ID
 - 11adcdeb
 - Number of codes included
 - 26
 
About
Description
Taken from the `GENETSYNDM_COD` refset published by NHSD. Contains public sector information licensed under the UK Open Government Licence v3.0 (https://www.nationalarchives.gov.uk/doc/open-government-licence/version/3/).
Codelists are developed by a broad community of users for individual study purposes, which may or may not meet the needs of other studies. They should not be thought of as universal definitions of a particular condition.
We don't offer any guarantees about what they do or don't identify. Users should carefully check that any codelist meets their needs, and seek clinical input where appropriate.
| code | term | 
|---|---|
| 112991000000101 | Lipoatrophic diabetes mellitus without complication | 
| 127012008 | Lipoatrophic diabetes | 
| 1285518004 | Wolfram syndrome type 1 | 
| 1285519007 | Wolfram syndrome type 2 | 
| 20678000 | Extreme insulin resistance with acanthosis nigricans, hirsutism AND autoantibodies to the insulin receptors | 
| 237608006 | Lipodystrophy, partial, with Rieger anomaly, short stature, and insulinopenic diabetes mellitus | 
| 237612000 | Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction | 
| 237616002 | Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 
| 237617006 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 
| 237619009 | Maternally inherited diabetes and deafness | 
| 24203005 | Extreme insulin resistance with acanthosis nigricans, hirsutism AND abnormal insulin receptors | 
| 33559001 | Pineal hyperplasia AND diabetes mellitus syndrome | 
| 54181000 | Diabetes-nephrosis syndrome | 
| 5969009 | Diabetes mellitus associated with genetic syndrome | 
| 70694009 | Wolfram syndrome | 
| 715439000 | Familial partial lipodystrophy type 2 | 
| 720519003 | Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome | 
| 721973006 | Lipodystrophy, intellectual disability, deafness syndrome | 
| 722206009 | Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | 
| 722454003 | Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome | 
| 724067006 | Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome | 
| 734022008 | Wolfram-like syndrome | 
| 782755007 | Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome | 
| 783722008 | Myopathy and diabetes mellitus | 
| 816067005 | Diabetes, hypogonadism, deafness, intellectual disability syndrome | 
| 91352004 | Diabetes mellitus due to structurally abnormal insulin |