wolman disease

Preferred Label : wolman disease;

MeSH definition : The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.;

MeSH synonym : xanthomatoses, familial; xanthomatosis, wolmans; liposomal acid lipase deficiency, wolman type; disease, wolman; xanthomatosis, wolman's; wolman's xanthomatosis; xanthomatosis, wolman; wolman's disease; disease, wolman's; wolmans disease; xanthomatosis, familial; familial xanthomatoses; familial xanthomatosis; acid cholesteryl ester hydrolase deficiency, wolman type; acid lipase deficiency; Wolman Disease with Hypolipoproteinemia and Acanthocytosis; Acid Lipase Deficiencies; Deficiencies, Acid Lipase; Deficiency, Acid Lipase; Lipase Deficiencies, Acid; Lipase Deficiency, Acid; Cholesterol ester hydrolase deficiency; LAL Deficiency; Deficiencies, LAL; Deficiency, LAL; LAL Deficiencies; LIPA Deficiency; Deficiencies, LIPA; Deficiency, LIPA; LIPA Deficiencies; Lysosomal Acid Lipase Deficiency;

CISMeF synonym : Wolman;

MeSH hyponym : Cholesterol ester hydrolase deficiency; LIPA Deficiency; Deficiencies, LIPA; Deficiency, LIPA; LIPA Deficiencies; LAL Deficiency; Deficiencies, LAL; Deficiency, LAL; LAL Deficiencies; Acid Cholesteryl Ester Hydrolase Deficiency, Type 2; Acid Lipase Disease; Acid Lipase Diseases; Disease, Acid Lipase; Diseases, Acid Lipase; Lipase Disease, Acid; Lipase Diseases, Acid;

Wikipedia link : https://en.wikipedia.org/wiki/Wolman disease;

Details

Origin ID

D015223;

UMLS CUI

C0043208;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- 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
- Lysosomal acid lipase deficiency [ORDO Disease]
- Lysosomal acid lipase deficiency (disorder) [SNOMED CT concept]
- Wolman Disease [NCIt concept]
- Wolman disease [PASCAL descriptor]
- Wolman disease [DO Concept]
- Wolman disease [Disease (Nov.)]
- Wolman disease [ICD-11 More detail]
- Wolman disease [ORDO Disease]
- Wolman's disease (disorder) [SNOMED CT concept]
- Xanthomatosis, familial (disorder) [SNOMED CT concept]
- acid lipase deficiency, nos [SNOMED Notion]
- wolman's disease [SNOMED Notion]
- wolman's disease [MedDRA Preferred Term]
DO Cross reference
- Wolman disease [DO Concept]
Indexing information
- Sebelipase alfa [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Lipid storage disease [ORDO Disease]
- Rare syndromic dyslipidemia [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
ORDO relation(s)
- Wolman disease [ORDO Disease]
Record concept(s)
- Acid Cholesteryl Ester Hydrolase Deficiency, Type 2 [MeSH concept]
- wolman disease [MeSH concept]
Related MeSH Supplementary Concept(s)
- lysosomal acid lipase deficiency [MeSH Supplementary Concept]
- wolman disease with hypolipoproteinemia and acanthocytosis [MeSH Supplementary 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 [NCIt concept]
- Wolman disease [ORDO Disease]
- Wolman disease [DO Concept]
- Wolman disease [PASCAL descriptor]
- 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's disease [MedDRA Preferred Term]
- wolman's disease [SNOMED Notion]
Validated automatic mappings to NTBT
- Lysosomal acid lipase deficiency [ICD-11 More detail]
- cholesteryl ester storage disorder [Disease (Nov.)]

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