Hypochondroplasia

Preferred Label : Hypochondroplasia;

NCIt definition : An autosomal dominant disorder that is often caused by a defect in fibroblast growth factor receptor 3, and characterized by short stature, micromelia, and a comparatively large head. The features are milder than those seen in achondroplasia.;

Alternative definition : NICHD: A condition phenotypically similar to, but milder than, achondroplasia that is often caused by mutations in the FGFR3 gene.;

Details

Origin ID

C118697;

UMLS CUI

C0410529;

Currated CISMeF NLP mapping
- Hypochondroplasia [OMIM Phenotype]
- Hypochondroplasia [ICD-11 Sub-sub category]
- Hypochondroplasia [ACR pathology]
- Hypochondroplasia [MedDRA Preferred Term]
- Hypochondroplasia [ACR pathology]
- Hypochondroplasia [ORDO Disease]
- Hypochondroplasia [PASCAL descriptor]
- Hypochondroplasia (disorder) [SNOMED CT concept]
- hypochondroplasia [MeSH concept]
- hypochondroplasia [DO Concept]
- hypochondroplasia [MeSH Supplementary Concept]
DO Cross reference
- hypochondroplasia [DO Concept]
See also inter- (CISMeF)
- Achondroplasia [ICD-10 Sub-category (who)]
- Achondroplasia [ICD-10 Sub-category]
- achondrogenesis, type ii [SNOMED Notion]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypochondroplasia [ORDO Disease]
- Hypochondroplasia [PASCAL descriptor]
- Hypochondroplasia [OMIM Phenotype]
- Hypochondroplasia [ACR pathology]
- Hypochondroplasia [ACR pathology]
- Hypochondroplasia [MedDRA Preferred Term]
- Hypochondroplasia [ICD-11 Sub-sub category]
- Hypochondroplasia (disorder) [SNOMED CT concept]
- hypochondroplasia [DO Concept]
- hypochondroplasia [MeSH Supplementary Concept]
- hypochondroplasia [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- FGFR3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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