Achondroplasia

Preferred Label : Achondroplasia;

NCIt definition : An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition is characterized by inappropriate cartilage growth plate differentiation and deficient endochondral growth, manifest clinically with severe rhizomelic short stature, short limbs, characteristic facies with frontal bossing and midface hypoplasia.;

Alternative definition : NICHD: An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition results in inappropriate cartilage growth plate differentiation and deficient endochondral growth, and manifests clinically with severe rhizomelic short stature.;

Details

Origin ID

C34345;

UMLS CUI

C0001080;

Automatic exact mappings (from CISMeF team)
- brachycephalic dwarfism [SNOMED Notion]
- dwarfism [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Achondroplasia [PASCAL descriptor]
- Achondroplasia [ACR pathology]
- Achondroplasia [ACR pathology]
- Achondroplasia [ICD-10 Sub-category]
- Achondroplasia [ACR pathology]
- Achondroplasia [ICD-11 Sub-sub category]
- Achondroplasia [ICD-10 Sub-category (who)]
- Achondroplasia [OMIM Phenotype]
- Achondroplasia [ORDO Disease]
- Achondroplasia [MedDRA LLT]
- Achondroplasia (disorder) [SNOMED CT concept]
- Achondroplastic dwarf [MedDRA LLT]
- achondroplasia [DO Concept]
- achondroplasia [Disease (Nov.)]
- achondroplasia [MeSH Descriptor]
- achondroplasia [MeSH concept]
- achondroplasia [SNOMED Notion]
- achondroplasia [Radlex concept]
DO Cross reference
- achondroplasia [DO Concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Achondroplasia [ORDO Disease]
- Achondroplasia [OMIM Phenotype]
- Achondroplasia [ICD-10 Sub-category]
- Achondroplasia [PASCAL descriptor]
- Achondroplasia [ICD-11 Sub-sub category]
- Achondroplasia [ICD-10 Sub-category (who)]
- Achondroplasia [MedDRA LLT]
- Achondroplasia (disorder) [SNOMED CT concept]
- Achondroplastic dwarf [MedDRA LLT]
- achondroplasia [Radlex concept]
- achondroplasia [DO Concept]
- achondroplasia [Disease (Nov.)]
- achondroplasia [MeSH Descriptor]
- achondroplasia [MeSH concept]
- achondroplasia [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_associated_gene
- FGFR3 Gene [NCIt concept]
- FGFR3 wt Allele [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone [NCIt concept]
disease_mapped_to_gene
- FGFR3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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