Mitochondrial disease codes
Codelist metadata
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Coding system
- SNOMED CT
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Coding system release
- 39.2.0
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Organisation
- NHSD Primary Care Domain Refsets
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Codelist ID
- nhsd-primary-care-domain-refsets/mitochondrial-disease-codes
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Version Tag
- 20241205
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Version ID
- 150086ae
Versions
About
Description
Taken from the MITOCHOND_COD refset published by NHSD.
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 |
Codes not in the full codelist are in faint grey.