Hypochondroplasia

Preferred Label : Hypochondroplasia;

Symbol : HCH;

CISMeF acronym : HCH;

Type : Phenotype, molecular basis known;

Description : Hypochondroplasia is a autosomal dominant disorder characterized by short-limbed dwarfism, lumbar lordosis, short and broad bones, and caudad narrowing of the interpediculate distance of the lumbar spine. It shows some resemblance to achondroplasia, but is much milder and can be distinguished on clinical and radiographic grounds (Walker et al., 1971).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3, 134934.0010);

Prefixed ID : #146000;

Détails

Origin ID

146000;

UMLS CUI

C0410529;

Automatic exact mappings (from CISMeF team)
- Hexachlorocyclohexane [ICD-11 Extension code]
Currated CISMeF NLP mapping
- Achondroplasia [ICD-10 Sub-category]
- Achondroplasia [ICD-10 Sub-category (who)]
- Hypochondroplasia [PASCAL descriptor]
- Hypochondroplasia [NCIt concept]
- Hypochondroplasia [ICD-11 Sub-sub category]
- Hypochondroplasia [MedDRA Preferred Term]
- Hypochondroplasia [ORDO Disease]
- Hypochondroplasia [ACR pathology]
- Hypochondroplasia [ACR pathology]
- Hypochondroplasia (disorder) [SNOMED CT concept]
- achondrogenesis, type ii [SNOMED Notion]
- hypochondroplasia [DO Concept]
- hypochondroplasia [MeSH concept]
- hypochondroplasia [MeSH Supplementary Concept]
DO Cross reference
- hypochondroplasia [DO Concept]
False automatic mappings
- Liver Congenital Hemangioma [NCIt concept]
Genes related to phenotype
- Fibroblast growth factor receptor 3 [OMIM gene]
HPO term(s)
- Abnormality of pelvic girdle bone morphology [HPO term]
- Acanthosis nigricans [HPO term]
- Aplasia/hypoplasia of the extremities [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Childhood onset short-limb short stature [HPO term]
- Flared metaphysis [HPO term]
- Frontal bossing [HPO term]
- Genu varum [HPO term]
- Intellectual disability [HPO term]
- Limited elbow extension [HPO term]
- Lumbar hyperlordosis [HPO term]
- Macrocephaly [HPO term]
- Malar flattening [HPO term]
- Mild frontal bossing [HPO term]
- Short long bone [HPO term]
- Short-limb dwarfism identifiable during childhood [HPO term]
- short tubular bones with mild metaphyseal flare [HPO term]
Not associated HPO term(s)
- Craniosynostosis [HPO term]
- Trident hand [HPO term]
ORDO concept(s)
- Hypochondroplasia [ORDO Disease]
See also inter- (CISMeF)
- Achondroplasia [ICD-11 Sub-sub category]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypochondroplasia [MedDRA Preferred Term]
- Hypochondroplasia [ORDO Disease]
- Hypochondroplasia [ACR pathology]
- Hypochondroplasia [ACR pathology]
- Hypochondroplasia [PASCAL descriptor]
- Hypochondroplasia [NCIt concept]
- Hypochondroplasia [ICD-11 Sub-sub category]
- Hypochondroplasia (disorder) [SNOMED CT concept]
- hypochondroplasia [MeSH Supplementary Concept]
- hypochondroplasia [MeSH concept]
- hypochondroplasia [DO Concept]

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

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