Wolman Disease

Preferred Label : Wolman Disease;

NCIt related terms : Wolman's Disease; Lysosomal Acid Lipase Deficiency;

NCIt definition : A very rare, autosomal recessive inherited lysosomal storage disease caused by mutations in the LIPA gene. Signs and symptoms appear in infancy and include developmental delay, vomiting, abdominal distention, hepatosplenomegaly, jaundice, anemia, steatorrhea, and calcification of the adrenal glands.;

Alternative definition : NICHD: An autosomal recessive condition caused by mutation(s) in the LIPA gene, resulting in lysosomal acid lipase deficiency, which leads to accumulation of cholesterol esters and triglycerides in many organs.;

Détails

Origin ID

C61271;

UMLS CUI

C0043208;

Automatic exact mappings (from CISMeF team)
- Lysosomal acid lipase deficiency [MedDRA Preferred Term]
- Other lipid storage disorders [ICD-10 Sub-category]
- Other lipid storage disorders [ICD-10 Sub-category (who)]
- Wolman's disease [MedDRA LLT]
- lipase A, lysosomal acid type [ORDO Gene]
- lipase A, lysosomal acid type [HGNC gene]
Currated CISMeF NLP mapping
- Acid Cholesteryl Ester Hydrolase Deficiency, Type 2 [MeSH concept]
- Lysosomal acid lipase deficiency [ORDO Disease]
- Lysosomal acid lipase deficiency (disorder) [SNOMED CT concept]
- Wolman disease [PASCAL descriptor]
- Wolman disease [Disease (Nov.)]
- Wolman disease [DO Concept]
- Wolman disease [ICD-11 More detail]
- Wolman disease [ORDO Disease]
- Wolman's disease (disorder) [SNOMED CT concept]
- Xanthomatosis, familial (disorder) [SNOMED CT concept]
- lysosomal acid lipase deficiency [MeSH Supplementary Concept]
- wolman disease [MeSH Descriptor]
- wolman disease [MeSH concept]
- wolman's disease [MedDRA Preferred Term]
- wolman's disease [SNOMED Notion]
DO Cross reference
- Wolman disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cholesteryl ester storage disease [OMIM Phenotype]
- Lysosomal acid lipase deficiency [MedDRA Preferred Term]
- Lysosomal acid lipase deficiency (disorder) [SNOMED CT concept]
- Wolman disease [ORDO Disease]
- Wolman disease [PASCAL descriptor]
- Wolman disease [DO Concept]
- Wolman disease [Disease (Nov.)]
- Wolman disease [ICD-11 More detail]
- Wolman disease [OMIM Phenotype]
- Wolman's disease [MedDRA LLT]
- Wolman's disease (disorder) [SNOMED CT concept]
- Xanthomatosis, familial (disorder) [SNOMED CT concept]
- acid lipase deficiency, nos [SNOMED Notion]
- wolman disease [MeSH concept]
- wolman disease [MeSH Descriptor]
- wolman disease with hypolipoproteinemia and acanthocytosis [MeSH Supplementary Concept]
- wolman's disease [MedDRA Preferred Term]
- wolman's disease [SNOMED Notion]
Validated automatic mappings to NTBT
- Lysosomal acid lipase deficiency [ICD-11 More detail]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- LIPA Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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