Wolman disease

Preferred Label : Wolman disease;

ICD-11 definition : Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency and can present in the fetus (hepatomegaly, ascitis, calcified adrenal glands), or more typically in the first weeks of life with abdominal distension and major or even massive hepatosplenomegaly (which can occur in the neonatal period) and sometimes ascitis and calcified adrenal glands.;

Details

Origin ID

520367511;

UMLS CUI

C0043208;

Automatic exact mappings (from CISMeF team)
- Wolman's disease [MedDRA LLT]
- lipase A, lysosomal acid type [HGNC gene]
Currated CISMeF NLP mapping
- Wolman Disease [NCIt concept]
- Wolman disease [ORDO Disease]
- Wolman disease [DO Concept]
- Wolman disease [PASCAL descriptor]
- Wolman disease [Disease (Nov.)]
- Wolman's disease (disorder) [SNOMED CT concept]
- wolman disease [MeSH Descriptor]
- wolman disease [MeSH concept]
- wolman's disease [SNOMED Notion]
- wolman's disease [MedDRA Preferred Term]
See also inter- (CISMeF)
- lipase A, lysosomal acid type [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lysosomal acid lipase deficiency [OMIM Phenotype]
- Lysosomal acid lipase deficiency [MedDRA Preferred Term]
- Lysosomal acid lipase deficiency (disorder) [SNOMED CT concept]
- Wolman Disease [NCIt concept]
- Wolman disease [DO Concept]
- Wolman disease [Disease (Nov.)]
- Wolman disease [ORDO Disease]
- Wolman disease [PASCAL descriptor]
- 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 Descriptor]
- wolman disease [MeSH concept]
- 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 [OMIM Phenotype]
- Lysosomal acid lipase deficiency [MeSH concept]
- Lysosomal acid lipase deficiency [ORDO Disease]
- Lysosomal acid lipase deficiency (disorder) [SNOMED CT concept]
- Other lipid storage disorders [ICD-10 Sub-category]
- lysosomal acid lipase deficiency [MeSH Supplementary Concept]

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