Acid Cholesteryl Ester Hydrolase Deficiency, Type 2

Preferred Label : Acid Cholesteryl Ester Hydrolase Deficiency, Type 2;

CISMeF synonym : Lysosomal acid lipase deficiency;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0525345;

UMLS CUI

C2936797;

Automatic exact mappings (from CISMeF team)
- Lysosomal acid lipase deficiency [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Cholesteryl ester storage disease [OMIM Phenotype]
- Lysosomal acid lipase deficiency [ICD-11 More detail]
- Lysosomal acid lipase deficiency [ORDO Disease]
- Lysosomal acid lipase deficiency (disorder) [SNOMED CT concept]
- Wolman Disease [NCIt concept]
- wolman's disease [SNOMED Notion]
Has phenotype(s) (HPO)
- Large vacuolated foam cells ('NP cells') on bone marrow biopsy [HPO term]
- Poor weight gain [HPO term]
Related record
- lysosomal acid lipase deficiency [MeSH Supplementary Concept]
- wolman disease [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lysosomal acid lipase deficiency [ORDO Disease]
Validated automatic mappings to BTNT
- Wolman disease [Disease (Nov.)]
- Wolman disease [ICD-11 More detail]
- Wolman's disease (disorder) [SNOMED CT concept]
- cholesteryl ester storage disorder [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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