Insulin Growth Factor I Deficiency

Preferred Label : Insulin Growth Factor I Deficiency;

NCIt synonyms : IGF-I Deficiency;

NCIt related terms : Insulin-like Growth Factor I Deficiency; IGF1 Deficiency;

NCIt definition : Insufficient circulating insulin-like growth factor-I.;

Alternative definition : NICHD: Growth hormone insensitivity/resistance caused by loss-of-function mutation(s) in the IGF1 gene, encoding insulin-like growth factor I (IGF-I). This condition is characterized by severe prenatal and/or postnatal growth failure, sensorineural deafness, neurocognitive deficiencies, and elevated GH concentrations accompanied by low IGF-I concentrations.;

Details

Origin ID

C120106;

UMLS CUI

C1837475;

Automatic exact mappings (from CISMeF team)
- Growth delay due to insulin-like growth factor I deficiency [ICD-11 More detail]
- Growth delay due to insulin-like growth factor type 1 deficiency [ORDO Disease]
- Insulin-Like growth factor I deficiency [MeSH concept]
- Insulin-Like growth factor I deficiency [MeSH Supplementary Concept]
- Insulin-like growth factor I deficiency [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Growth delay due to insulin-like growth factor type 1 deficiency [ORDO Disease]
- Growth delay due to insulin-like growth factor type 1 deficiency (disorder) [SNOMED CT concept]
- Insulin-Like growth factor I deficiency [MeSH Supplementary Concept]
- Insulin-Like growth factor I deficiency [MeSH concept]
- Insulin-like growth factor I deficiency [OMIM Phenotype]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
related_to_genetic_biomarker
- IGF1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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