Leptin Deficiency

Preferred Label : Leptin Deficiency;

NCIt definition : Deficiency of the adipose tissue-derived peptide hormone leptin, associated with loss-of-function mutation(s) in the LEP gene.;

Alternative definition : NICHD: Deficiency of the adipose tissue-derived peptide hormone leptin, which is associated with loss-of-function mutation(s) in the LEP gene.;

Details

Origin ID

C120384;

UMLS CUI

C3554224;

CISMeF manual mappings
- leptin deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital leptin deficiency [MedDRA Preferred Term]
- Congenital leptin deficiency (disorder) [SNOMED CT concept]
- Leptin deficiency or dysfunction [OMIM Phenotype]
- Obesity due to congenital leptin deficiency [ORDO Disease]
- Obesity due to congenital leptin deficiency [ICD-11 More detail]
- congenital leptin deficiency [DO Concept]
- leptin deficiency [Disease (Nov.)]
Validated automatic mappings to BTNT
- Leptin deficiency or dysfunction [OMIM Phenotype]
- Obesity due to congenital leptin deficiency [ICD-11 More detail]
- Obesity due to congenital leptin deficiency [ORDO Disease]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- LEP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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