Growth Hormone Insensitivity Syndrome

Preferred Label : Growth Hormone Insensitivity Syndrome;

NCIt synonyms : Growth Hormone Insensitivity Syndromes;

NCIt definition : A group of inherited syndromes in which there is impaired growth hormone signaling, despite normal or increased growth hormone concentrations. The syndromes are characterized by some or all of the following: prenatal and/or postnatal growth failure, immature facial features, microcephaly, neurocognitive deficiencies, sensorineural hearing loss, immune dysregulation, and delayed puberty.;

Alternative definition : NICHD: A group of inherited syndromes in which there is impaired growth hormone signaling despite normal or increased growth hormone concentrations. The syndromes are characterized by some or all of the following: prenatal and/or postnatal growth failure, immature facial features, microcephaly, neurocognitive deficiencies, sensorineural hearing loss, immune dysregulation, and delayed puberty.;

Details

Origin ID

C129867;

UMLS CUI

C4318479;

Automatic exact mappings (from CISMeF team)
- Growth hormone insensitivity syndrome [ORDO Disease]
- Laron syndrome [OMIM Phenotype]
- Short stature due to a defect in growth hormone receptor or post receptor pathway [ICD-11 More detail]
- laron syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients