Lysosomal acid lipase deficiency

Preferred Label : Lysosomal acid lipase deficiency;

ICD-11 definition : Lysosomal Acid Lipase (LAL) Deficiency happens when the body does not produce enough active lysosomal acid lipase (LAL or LIPA) enzyme. This enzyme plays an important role in breaking down fatty material (cholesteryl esters and triglycerides) in the body.;

ICD-11 synonym : Acid esterase deficiency;

Details

Origin ID

381622932;

Automatic exact mappings (from CISMeF team)
- Acute lymphoblastic leukemia [ORDO Disease]
- Lysosomal acid lipase deficiency [MedDRA Preferred Term]
- lipase A, lysosomal acid type [ORDO Gene]
Currated CISMeF NLP mapping
- Acid Cholesteryl Ester Hydrolase Deficiency, Type 2 [MeSH concept]
- Cholesteryl ester storage disease [OMIM Phenotype]
- Lysosomal acid lipase deficiency [ORDO Disease]
- Lysosomal acid lipase deficiency (disorder) [SNOMED CT concept]
- lysosomal acid lipase deficiency [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Wolman Disease [NCIt concept]
- Wolman disease [DO Concept]
- Wolman's disease (disorder) [SNOMED CT concept]
- wolman disease [MeSH Descriptor]
- wolman's disease [SNOMED Notion]
Validated automatic mappings to NTBT
- cholesterol ester storage disease [MeSH Descriptor]

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