Pro-Opiomelanocortin Deficiency

Preferred Label : Pro-Opiomelanocortin Deficiency;

NCIt related terms : POMC Deficiency;

NCIt definition : Deficiency of the hormone precursor, pro-opiomelanocortin, associated with loss-of-function mutation(s) in the POMC gene.;

Alternative definition : NICHD: Deficiency of the hormone precursor pro-opiomelanocortin, which is associated with loss-of-function mutation(s) in the POMC gene.;

Details

Origin ID

C120393;

UMLS CUI

C1857854;

Automatic exact mappings (from CISMeF team)
- Pro-opiomelanocortin deficiency [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Obesity due to pro-opiomelanocortin deficiency [ICD-11 More detail]
- Obesity due to pro-opiomelanocortin deficiency [ORDO Disease]
- Obesity, early-onset, with adrenal insufficiency and red hair [OMIM Phenotype]
- Proopiomelanocortin deficiency syndrome (disorder) [SNOMED CT concept]
- proopiomelanocortin deficiency [MeSH concept]
- proopiomelanocortin deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Obesity, early-onset, with adrenal insufficiency and red hair [OMIM Phenotype]
- Pro-opiomelanocortin deficiency [MedDRA Preferred Term]
- Proopiomelanocortin deficiency syndrome (disorder) [SNOMED CT concept]
- proopiomelanocortin deficiency [MeSH Supplementary Concept]
- proopiomelanocortin deficiency [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- POMC Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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