Chylomicron retention disease

Preferred Label : Chylomicron retention disease;

ICD-11 definition : Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic (steatosis), neurologic (areflexia, ataxia, myopathy, sensory neuropathy) and ophthalmologic (minor visual abnormalities) complications.;

ICD-11 synonym : Hypobetalipoproteinaemia with selective deletion of Apo B-48; Anderson disease; CMRD - [chylomicron retention disease];

ICD-11 acronym : CMRD;

Details

Origin ID

1447416932;

Automatic exact mappings (from CISMeF team)
- Chylomicron retention disease [OMIM Phenotype]
- Chylomicron retention disease [ORDO Disease]
- Chylomicron retention disease [MeSH concept]
- Chylomicron retention disease (disorder) [SNOMED CT concept]
- Hyperchylomicronemia [ICD-10 Sub-category]
- SAR1B wt Allele [NCIt concept]
- chylomicron retention disease [MeSH Supplementary Concept]
- chylomicron retention disease [DO Concept]

Keyword's position in hierarchy(ies) :

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