lathosterolosis

Preferred Label : lathosterolosis;

MeSH synonym : deficiency of 3-beta-hydroxysteroid-delta(5)-desaturase; 3-beta-hydroxysteroid-delta(5)-desaturase deficiency; sterol C5-Desaturase deficiency;

Details

Origin ID

C537880;

UMLS CUI

C1846421;

Currated CISMeF NLP mapping
- Lathosterolosis [ICD-11 More detail]
- Lathosterolosis [OMIM Phenotype]
- Lathosterolosis [ORDO Disease]
- Lathosterolosis (disorder) [SNOMED CT concept]
- lathosterolosis [Disease (Nov.)]
Has phenotype(s) (HPO)
- Bitemporal narrowing [HPO term]
- Corneal opacity [HPO term]
- High-arched palate [HPO term]
MeSH term(s) associated for indexing
- oxidoreductases acting on CH-CH group donors [MeSH Descriptor]
- steroid metabolism, inborn errors [MeSH Descriptor]
ORDO relation(s)
- Lathosterolosis [ORDO Disease]
Record concept(s)
- Lathosterolosis [MeSH concept]
See also (suggested by CISMeF)
- lathosterol delta-5-dehydrogenase [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lathosterolosis [ORDO Disease]
- Lathosterolosis [OMIM Phenotype]
- Lathosterolosis [ICD-11 More detail]
- Lathosterolosis (disorder) [SNOMED CT concept]
- lathosterolosis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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