Pelizaeus-Merzbacher disease

ICD-11 code : 8A44.0;

Preferred Label : Pelizaeus-Merzbacher disease;

ICD-11 definition : Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.;

Details

Origin ID

1313582105;

Automatic exact mappings (from CISMeF team)
- proteolipid protein 1 [ORDO Gene]
- proteolipid protein 1 [HGNC gene]
Currated CISMeF NLP mapping
- Pelizaeus Merzbacher disease [Disease (Nov.)]
- Pelizaeus-Merzbacher Disease [NCIt concept]
- Pelizaeus-Merzbacher disease [PASCAL descriptor]
- Pelizaeus-Merzbacher disease [MeSH concept]
- Pelizaeus-Merzbacher disease [MedDRA Preferred Term]
- Pelizaeus-Merzbacher disease [DO Concept]
- Pelizaeus-Merzbacher disease [ORDO Disease]
- Pelizaeus-Merzbacher disease (disorder) [SNOMED CT concept]
- Pelizaeus-merzbacher disease [OMIM Phenotype]
- Pelizaeus–Merzbacher disease [PASCAL descriptor]
- Sudanophilic leukodystrophy [HPO term]
- pelizaeus-merzbacher disease [SNOMED Notion]
- pelizaeus-merzbacher disease [MeSH Descriptor]
ICD-10 Mapping
- Other sphingolipidosis [ICD-10 Sub-category]

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