Achondroplasia

Preferred Label : Achondroplasia;

Symbol : ACH;

CISMeF acronym : ACH;

Type : Phenotype, molecular basis known;

Description : Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3, 134934.0001);

Prefixed ID : #100800;

Details

Origin ID

100800;

UMLS CUI

C0001080;

Automatic exact mappings (from CISMeF team)
- Acetylcholine [FMA entity]
- Acetylcholine [LOINC component]
- Acetylcholine Measurement [NCIt concept]
- Aching pain (finding) [SNOMED CT concept]
- Aching sensation quality (qualifier value) [SNOMED CT concept]
- Acoli Language [NCIt concept]
- acetylcholine [SNOMED Notion]
- acetylcholine [MeSH Descriptor]
- acetylcholine [MeSH concept]
- acetylcholine [ATC Code]
- brachycephalic dwarfism [SNOMED Notion]
- dwarfism [MedlinePlus Topic]
- symbol withdrawn ACH [HGNC gene]
Currated CISMeF NLP mapping
- Achondroplasia [PASCAL descriptor]
- Achondroplasia [ICD-10 Sub-category]
- Achondroplasia [ICD-11 Sub-sub category]
- Achondroplasia [ICD-10 Sub-category (who)]
- Achondroplasia [NCIt concept]
- Achondroplasia [ORDO Disease]
- Achondroplasia [MedDRA LLT]
- Achondroplasia [ACR pathology]
- Achondroplasia [ACR pathology]
- Achondroplasia [ACR pathology]
- Achondroplasia (disorder) [SNOMED CT concept]
- Achondroplastic dwarf [MedDRA LLT]
- FGFR3 wt Allele [NCIt concept]
- achondroplasia [DO Concept]
- achondroplasia [Disease (Nov.)]
- achondroplasia [MeSH Descriptor]
- achondroplasia [MeSH concept]
- achondroplasia [Radlex concept]
- achondroplasia [SNOMED Notion]
DO Cross reference
- achondroplasia [DO Concept]
Genes related to phenotype
- Fibroblast growth factor receptor 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bowing of the legs [HPO term]
- Brachydactyly [HPO term]
- Brain stem compression [HPO term]
- Conductive hearing impairment [HPO term]
- Depressed nasal bridge [HPO term]
- Flared metaphysis [HPO term]
- Foramen magnum stenosis [HPO term]
- Frontal bossing [HPO term]
- Generalized joint laxity [HPO term]
- Genu varum [HPO term]
- Genu varus [HPO term]
- Hydrocephalus [HPO term]
- Infantile muscular hypotonia [HPO term]
- Limited elbow extension [HPO term]
- Limited hip extension [HPO term]
- Low nasal bridge [HPO term]
- Lumbar hyperlordosis [HPO term]
- Lumbar kyphosis in infancy [HPO term]
- Malar flattening [HPO term]
- Megalencephaly [HPO term]
- Midface retrusion [HPO term]
- Motor delay [HPO term]
- Neonatal short-limb short stature [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent otitis media in infancy [HPO term]
- Recurrent otitis media in infancy and childhood [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Short femoral neck [HPO term]
- Short femoral neck [HPO term]
- Short limb dwarfism [HPO term]
- Short-limb dwarfism identifiable at birth [HPO term]
- Small foramen magnum [HPO term]
- Spinal stenosis [HPO term]
- Spinal stenosis with reduced interpedicular distance [HPO term]
- Trident hand [HPO term]
- Upper airway obstruction [HPO term]
- congenital spinal stenosis due to short pedicles [HPO term]
ORDO concept(s)
- Achondroplasia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Achondroplasia [ICD-10 Sub-category (who)]
- Achondroplasia [ORDO Disease]
- Achondroplasia [NCIt concept]
- Achondroplasia [MedDRA LLT]
- Achondroplasia [ICD-10 Sub-category]
- Achondroplasia [PASCAL descriptor]
- Achondroplasia [ICD-11 Sub-sub category]
- Achondroplasia (disorder) [SNOMED CT concept]
- Achondroplastic dwarf [MedDRA LLT]
- achondroplasia [SNOMED Notion]
- achondroplasia [MeSH Descriptor]
- achondroplasia [MeSH concept]
- achondroplasia [Radlex concept]
- achondroplasia [DO Concept]
- achondroplasia [Disease (Nov.)]

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