Infantile Refsum Disease

Preferred Label : Infantile Refsum Disease;

NCIt definition : A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.;

Details

Origin ID

C84789;

UMLS CUI

C0282527;

Automatic exact mappings (from CISMeF team)
- Refsum's disease [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- Infantile Refsum disease [ICD-11 More detail]
- Infantile Refsum disease [ORDO Disease]
- Infantile Refsum's disease (disorder) [SNOMED CT concept]
- infantile Refsum disease [DO Concept]
- infantile Refsum disease [Disease (Nov.)]
- refsum disease, infantile [MeSH Descriptor]
- refsum disease, infantile [MeSH concept]
DO Cross reference
- infantile 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)
- Infantile Refsum disease [ORDO Disease]
- Infantile Refsum disease [ICD-11 More detail]
- Infantile Refsum's disease (disorder) [SNOMED CT concept]
- Peroxisome biogenesis disorder 1b [OMIM Phenotype]
- infantile Refsum disease [DO Concept]
- infantile Refsum disease [Disease (Nov.)]
- refsum disease, infantile [MeSH concept]
- refsum disease, infantile [MeSH Descriptor]
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]
disease_mapped_to_gene
- Peroxisome Biogenesis Factor Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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