Mitochondrial disease codes
Metadata
- Coding system
- SNOMED CT (UK Clinical Edition)
- Coding system release
- 40.2.0
- Organisation
- NHSD Primary Care Domain Refsets
- Codelist ID
- nhsd-primary-care-domain-refsets/mitochond_cod
- Version Tag
- 20250627
- Version ID
- 0b77a60c
- Number of codes included
- 14
About
Description
Taken from the `MITOCHOND_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 |
|---|---|
| 1208937004 | Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies |
| 1231309005 | Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form |
| 1237514002 | Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome |
| 1260365000 | Dystonia due to mitochondrial disease |
| 1263505003 | Myoclonic disorder due to mitochondrial disorder |
| 1264009006 | Isolated cytochrome C oxidase deficiency |
| 1279890001 | Multiple mitochondrial dysfunctions syndrome type 5 |
| 1279891002 | Multiple mitochondrial dysfunctions syndrome type 6 |
| 237985009 | Pearson's syndrome |
| 297231002 | 3-Methylglutaconic aciduria type 2 |
| 44423001 | Early myoclonic encephalopathy |
| 764733009 | Progressive external ophthalmoplegia, myopathy, emaciation syndrome |
| 783157004 | Leigh syndrome with nephrotic syndrome |
| 784346006 | Navajo neurohepatopathy |