Achondroplasia

ICD-11 code : LD24.00;

Preferred Label : Achondroplasia;

ICD-11 definition : Achondroplasia is the most frequent form of chondrodysplasia and is a type of dwarfism is characterized by short limbs, hyperlordosis, short hands, and macrocephaly with high forehead and saddle nose, with normal intellectual development.;

ICD-11 synonym : congenital osteosclerosis; achondroplastic short stature; achondroplastic dwarfism; Osteosclerosis congenita;

Details

Origin ID

24224082;

UMLS CUI

C0001080;

Currated CISMeF NLP mapping
- Achondroplasia [ORDO Disease]
- Achondroplasia [MedDRA LLT]
- Achondroplasia [NCIt concept]
- Achondroplasia [PASCAL descriptor]
- Achondroplasia [OMIM Phenotype]
- Achondroplasia [ICD-10 Sub-category]
- Achondroplasia [ICD-10 Sub-category (who)]
- Achondroplasia [ACR pathology]
- Achondroplasia [ACR pathology]
- Achondroplasia [ACR pathology]
- Achondroplasia (disorder) [SNOMED CT concept]
- Achondroplastic dwarf [MedDRA LLT]
- achondroplasia [MeSH concept]
- achondroplasia [DO Concept]
- achondroplasia [MeSH Descriptor]
- achondroplasia [SNOMED Notion]
- achondroplasia [Radlex concept]
- achondroplasia [Disease (Nov.)]
ICD-10 Mapping
- Achondroplasia [ICD-10 Sub-category]
See also inter- (CISMeF)
- Achondroplastic dwarfism [MeSH concept]
- FGFR3 wt Allele [NCIt concept]
- Hypochondroplasia [OMIM Phenotype]
- Hypochondroplasia [MedDRA Preferred Term]
- Hypochondroplasia [ORDO Disease]
- achondroplastic dwarfism [MeSH Supplementary Concept]
- brachycephalic dwarfism [SNOMED Notion]
- dwarfism [MedlinePlus Topic]
- hypochondroplasia [MeSH concept]
- hypochondroplasia [MeSH Supplementary Concept]
- hypochondroplasia [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
Validated automatic mappings to BTNT
- achondrogenesis, type ii [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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