Leukotriene c4 synthase deficiency

Preferred Label : Leukotriene c4 synthase deficiency;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Ltc4 synthase deficiency;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Leukotriene C4 synthetase deficiency;

Prefixed ID : 614037;

Details

Origin ID

614037;

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 [MeSH concept]
- leukotriene C4 synthase deficiency [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Death in infancy [HPO term]
- Failure to thrive in infancy [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Microcephaly [HPO term]
- Reduced circulating leukotriene C4 concentration [HPO term]
ORDO concept(s)
- Hypotonia-failure to thrive-microcephaly syndrome [ORDO Disease]
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 [MeSH Supplementary Concept]
- leukotriene C4 synthase deficiency [MeSH concept]

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