Lathosterolosis

Preferred Label : Lathosterolosis;

ICD-11 definition : Lathosterolosis is an inborn error of cholesterol biosynthesis caused by 3-beta-hydroxysteroid-delta-5-desaturase (SC5D) deficiency and associated with malformations, intellectual deficit and liver disease.;

ICD-11 synonym : Sterol C5-desaturase deficiency; 3-beta-hydroxysterol delta-5-desaturase deficiency;

Details

Origin ID

1816858203;

UMLS CUI

C1846421;

Currated CISMeF NLP mapping
- Lathosterolosis [MeSH concept]
- Lathosterolosis [OMIM Phenotype]
- Lathosterolosis [ORDO Disease]
- Lathosterolosis (disorder) [SNOMED CT concept]
- lathosterolosis [MeSH Supplementary Concept]
- lathosterolosis [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lathosterolosis [OMIM Phenotype]
- Lathosterolosis [MeSH concept]
- Lathosterolosis [ORDO Disease]
- Lathosterolosis (disorder) [SNOMED CT concept]
- lathosterolosis [MeSH Supplementary Concept]
- lathosterolosis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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