Refsum Disease

Preferred Label : Refsum Disease;

NCIt definition : A rare autosomal recessive condition caused by mutation(s) in the PHYH gene, encoding phytanoyl-CoA dioxygenase, peroxisomal. It is characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy.;

Details

Origin ID

C85043;

UMLS CUI

C0034960;

Currated CISMeF NLP mapping
- Phytanic acid storage disease [MedDRA LLT]
- Phytanic acid storage disease (disorder) [SNOMED CT concept]
- Refsum disease [Disease (Nov.)]
- Refsum disease [DO Concept]
- Refsum disease [PASCAL descriptor]
- Refsum disease [ICD-11 More detail]
- Refsum disease [ORDO Disease]
- Refsum disease, classic [OMIM Phenotype]
- Refsum's disease [ICD-9 code]
- Refsum's disease [ICD-10 Sub-category]
- Refsum's disease [MedDRA Preferred Term]
- Refsums disease [ICD-10 Sub-category (who)]
- phytanic acid storage disease [SNOMED Notion]
- refsum disease [MeSH Descriptor]
- refsum disease [MeSH concept]
DO Cross reference
- Refsum disease [DO Concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Phytanic acid storage disease [MedDRA LLT]
- Phytanic acid storage disease (disorder) [SNOMED CT concept]
- Refsum disease [ORDO Disease]
- Refsum disease [PASCAL descriptor]
- Refsum disease [DO Concept]
- Refsum disease [Disease (Nov.)]
- Refsum disease [ICD-11 More detail]
- Refsum disease, classic [OMIM Phenotype]
- Refsum's disease [ICD-9 code]
- Refsum's disease [ICD-10 Sub-category]
- Refsum's disease [MedDRA Preferred Term]
- Refsums disease [ICD-10 Sub-category (who)]
- phytanic acid storage disease [SNOMED Notion]
- refsum disease [MeSH Descriptor]
- refsum disease [MeSH concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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