Infantile Refsum disease

Preferred Label : Infantile Refsum disease;

ICD-11 definition : The infantile form of Refsum disease belongs to the group of peroxisomal diseases, a subset of the leukodystrophic diseases. Clinical signs appear at birth, frequently with retinitis pigmentosa often leading to blindness, and with severe hearing loss, associated with cerebellar ataxia, nystagmus, hypotonia, growth retardation, intellectual deficit, mild facial dysmorphism, osteoporosis, hepatomegaly and hypocholesterolemia.;

Details

Origin ID

745921582;

UMLS CUI

C0282527;

Currated CISMeF NLP mapping
- Infantile Refsum Disease [NCIt concept]
- 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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile Refsum Disease [NCIt concept]
- Infantile Refsum disease [ORDO Disease]
- 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 Descriptor]
- refsum disease, infantile [MeSH concept]
Validated automatic mappings to NTBT
- Refsum's disease [ICD-10 Sub-category]

Keyword's position in hierarchy(ies) :

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