Laron Syndrome

Preferred Label : Laron Syndrome;

NCIt related terms : Growth Hormone Receptor Deficiency;

Alternative definition : NICHD: Growth hormone insensitivity syndrome caused by mutation(s) and/or deletion(s) in the GHR gene, encoding the growth hormone receptor.;

NCI Metathesaurus CUI : CL513965;

Détails

Origin ID

C130994;

UMLS CUI

C0271568;

Currated CISMeF NLP mapping
- Growth hormone insensitivity syndrome [ORDO Disease]
- Laron syndrome [OMIM Phenotype]
- Laron syndrome [DO Concept]
- Laron syndrome [ORDO Disease]
- Laron syndrome [MedDRA Preferred Term]
- Laron-type dwarfism [MedDRA LLT]
- Laron-type isolated somatotropin defect (disorder) [SNOMED CT concept]
- Short stature due to growth hormone resistance [ICD-11 More detail]
- laron syndrome [MeSH Descriptor]
- laron syndrome [MeSH concept]
- laron syndrome [Disease (Nov.)]
- laron-type isolated somatotropin defect [SNOMED Notion]
DO Cross reference
- Laron syndrome [DO Concept]
See also inter- (CISMeF)
- Short stature due to primary acid labile subunit deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Growth hormone insensitivity syndrome [ORDO Disease]
- Laron syndrome [ORDO Disease]
- Laron syndrome [DO Concept]
- Laron syndrome [OMIM Phenotype]
- Laron syndrome [MedDRA Preferred Term]
- Laron-type dwarfism [MedDRA LLT]
- Laron-type isolated somatotropin defect (disorder) [SNOMED CT concept]
- laron syndrome [MeSH Descriptor]
- laron syndrome [MeSH concept]
- laron syndrome [Disease (Nov.)]
- laron-type isolated somatotropin defect [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- GHR Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients