Refsum disease

Preferred Label : Refsum disease;

ICD-11 definition : Refsum disease, a very rare disease, biochemically characterised by phytanic acid accumulation, belongs to the group of leukodystrophic diseases. The first symptom is hemeralopia (loss of vision in the dark), followed by episods of chronic distal motor polyneuropathy. Other associated signs include perceptive deafness, anosmia, cerebellous ataxia and sometimes, severe intellectual deficiency.;

ICD-11 synonym : Phytanic acid storage disease; Refsum-Thiebaut disease; Heredoataxia hemeralopica polyneuritiformis; Hereditary motor and sensory neuropathy type 4; Phytanic acid oxidase deficiency; HMSN 4 - [Hereditary motor and sensory neuropathy type 4];

ICD-11 acronym : HMSN 4;

Details

Origin ID

1055252392;

UMLS CUI

C0034960;

Automatic exact mappings (from CISMeF team)
- peroxisomal biogenesis factor 7 [HGNC gene]
- phytanoyl-CoA 2-hydroxylase [HGNC gene]
Currated CISMeF NLP mapping
- Phytanic acid storage disease [MedDRA LLT]
- Phytanic acid storage disease (disorder) [SNOMED CT concept]
- Refsum Disease [NCIt concept]
- Refsum disease [DO Concept]
- Refsum disease [ORDO Disease]
- Refsum disease [PASCAL descriptor]
- Refsum disease [Disease (Nov.)]
- Refsum disease, classic [OMIM Phenotype]
- Refsum's disease [ICD-9 code]
- Refsum's disease [MedDRA Preferred Term]
- Refsum's disease [ICD-10 Sub-category]
- Refsums disease [ICD-10 Sub-category (who)]
- phytanic acid storage disease [SNOMED Notion]
- refsum disease [MeSH concept]
- refsum disease [MeSH Descriptor]
See also inter- (CISMeF)
- peroxisomal biogenesis factor 7 [ORDO Gene]
- phytanoyl-CoA 2-hydroxylase [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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