Farber Lipogranulomatosis

Preferred Label : Farber Lipogranulomatosis;

NCIt definition : A very rare autosomal recessive metabolic disorder affecting lipid metabolism. It is caused by mutations in the ASAH1 gene and is characterized by fatty accumulation in the body tissues. Patients develop lipogranulomas in the skin and internal organs, edema and pain in the joints and a hoarse voice. It may be associated with intellectual disability.;

Details

Origin ID

C84710;

UMLS CUI

C0268255;

Currated CISMeF NLP mapping
- Farber disease [PASCAL descriptor]
- Farber disease [ICD-11 More detail]
- Farber disease [ORDO Disease]
- Farber lipogranulomatosis [DO Concept]
- Farber lipogranulomatosis [OMIM Phenotype]
- Farber's lipogranulomatosis (disorder) [SNOMED CT concept]
- ceramidase deficiency [Disease (Nov.)]
- farber lipogranulomatosis [MeSH Descriptor]
- farber lipogranulomatosis [MeSH concept]
- farber's lipogranulomatosis [SNOMED Notion]
DO Cross reference
- Farber lipogranulomatosis [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Farber disease [ORDO Disease]
- Farber disease [PASCAL descriptor]
- Farber disease [ICD-11 More detail]
- Farber disease [MedDRA LLT]
- Farber lipogranulomatosis [OMIM Phenotype]
- Farber lipogranulomatosis [DO Concept]
- Farber's lipogranulomatosis (disorder) [SNOMED CT concept]
- ceramidase deficiency [Disease (Nov.)]
- farber lipogranulomatosis [MeSH concept]
- farber lipogranulomatosis [MeSH Descriptor]
- farber's lipogranulomatosis [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ASAH1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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