Other lipid storage disorders

Preferred Label : Other lipid storage disorders;

Inclusion CIM-10 : Cerebrotendinous cholesterosis [van Bogaert-Scherer-Epstein]; Wolman's disease;

Diag associé à un acte (%) : 87.2;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

E755;

UMLS CUI

C0348490;

Automatic exact mappings (from CISMeF team)
- Lysosomal acid lipase deficiency [OMIM Phenotype]
- Wolman Disease [NCIt concept]
- Wolman disease [ORDO Disease]
- Wolman disease [DO Concept]
- Wolman disease [PASCAL descriptor]
- Wolman's disease [MedDRA LLT]
- Wolman's disease (disorder) [SNOMED CT concept]
- lipase A, lysosomal acid type [ORDO Gene]
- lipase A, lysosomal acid type [HGNC gene]
- wolman disease [MeSH Descriptor]
- wolman disease [MeSH concept]
DO Cross reference
- Wolman disease [DO Concept]
Excluded by
- Mixed hyperlipidemia [ICD-10 Sub-category]
Orphanet concepts
- Cerebrotendinous xanthomatosis [ORDO Disease]
- Cholesteryl ester storage disease [ORDO Disease]
- Lipid storage disease [ORDO Disease]
- Lysosomal acid lipase deficiency [ORDO Disease]
- Neutral lipid storage disease [ORDO Disease]
- Neutral lipid storage disease with ichthyosis [ORDO Disease]
- Neutral lipid storage myopathy [ORDO Disease]
- Primary triglyceride deposit cardiomyovasculopathy [ORDO Disease]
- Wolman disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- Wolman disease [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

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