leukotriene C4 synthase deficiency

Preferred Label : leukotriene C4 synthase deficiency;

Définition CISMeF : Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.;

MeSH synonym : LTC4 synthase deficiency;

Details

Origin ID

C565439;

UMLS CUI

C3279662;

Currated CISMeF NLP mapping
- Deficiency of leukotriene C4 synthase (disorder) [SNOMED CT concept]
- Hypotonia-failure to thrive-microcephaly syndrome [ORDO Disease]
- Leukotriene c4 synthase deficiency [OMIM Phenotype]
MeSH term(s) associated for indexing
- glutathione transferase [MeSH Descriptor]
- metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- leukotriene C4 synthase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of leukotriene C4 synthase (disorder) [SNOMED CT concept]
- Hypotonia-failure to thrive-microcephaly syndrome [ORDO Disease]
- Leukotriene c4 synthase deficiency [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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