gaucher disease, perinatal lethal

Preferred Label : gaucher disease, perinatal lethal;

MeSH note : mutation in glucocerebrosidase;

MeSH synonym : gaucher disease, collodion type;

Details

Origin ID

C564306;

UMLS CUI

C1842704;

Currated CISMeF NLP mapping
- Fetal Gaucher disease [ORDO Disease]
- Gaucher disease, perinatal lethal [OMIM Phenotype]
- Gaucher's disease perinatal lethal [DO Concept]
- Perinatal lethal Gaucher disease (disorder) [SNOMED CT concept]
- Perinatal-lethal Gaucher disease [ICD-11 More detail]
MeSH term(s) associated for indexing
- gaucher disease [MeSH Descriptor]
Record concept(s)
- gaucher disease, perinatal lethal [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fetal Gaucher disease [ORDO Disease]
- Gaucher disease, perinatal lethal [OMIM Phenotype]
- Gaucher's disease perinatal lethal [DO Concept]
- Perinatal lethal Gaucher disease (disorder) [SNOMED CT concept]
- Perinatal-lethal Gaucher disease [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

Main resources

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