laron syndrome

Preferred Label : laron syndrome;

MeSH definition : An autosomal recessive disorder characterized by short stature, defective GROWTH HORMONE RECEPTOR, and failure to generate INSULIN-LIKE GROWTH FACTOR I by GROWTH HORMONE. Laron syndrome is not a form of primary pituitary dwarfism (GROWTH HORMONE DEFICIENCY DWARFISM) but the result of mutation of the human GHR gene on chromosome 5.;

MeSH synonym : syndrome, laron; primary growth hormone resistance; growth hormone receptor defect; laron dwarfism; dwarfism, laron; primary gh resistance; gh resistance, primary; severe gh insensitivity; growth hormone insensitivity syndrome; laron type dwarfism i; pituitary dwarfism II; dwarfism II, pituitary; dwarfism IIs, pituitary; pituitary dwarfism IIs; growth hormone receptor deficiency;

CISMeF synonym : laron's syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Laron syndrome;

Details

Origin ID

D046150;

UMLS CUI

C0271568;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Growth Hormone Insensitivity Syndrome [NCIt concept]
- Growth hormone receptor abnormality (disorder) [SNOMED CT concept]
- Laron dwarfism [PASCAL descriptor]
- Short stature due to a defect in growth hormone receptor or post receptor pathway [ICD-11 More detail]
Currated CISMeF NLP mapping
- Growth hormone insensitivity syndrome [ORDO Disease]
- Laron Syndrome [NCIt concept]
- Laron syndrome [MedDRA Preferred Term]
- Laron syndrome [DO Concept]
- Laron syndrome [OMIM Phenotype]
- Laron syndrome [ORDO Disease]
- 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 [Disease (Nov.)]
- laron-type isolated somatotropin defect [SNOMED Notion]
DO Cross reference
- Laron syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- Combined T and B cell immunodeficiency [ORDO Disease]
ORDO relation(s)
- Laron syndrome [ORDO Disease]
Record concept(s)
- laron syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- laron syndrome type 2 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Growth hormone insensitivity syndrome [ORDO Disease]
- Laron Syndrome [NCIt concept]
- Laron syndrome [OMIM Phenotype]
- Laron syndrome [ORDO Disease]
- Laron syndrome [MedDRA Preferred Term]
- Laron syndrome [DO Concept]
- Laron-type dwarfism [MedDRA LLT]
- Laron-type isolated somatotropin defect (disorder) [SNOMED CT concept]
- laron syndrome [Disease (Nov.)]
- laron-type isolated somatotropin defect [SNOMED Notion]
Validated automatic mappings to NTBT
- Growth hormone insensitivity syndrome [ORDO Disease]

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