Pseudoachondroplasia

Preferred Label : Pseudoachondroplasia;

NCIt definition : A rare, autosomal dominant inherited disorder caused by mutations in the COMP gene. It is characterized by short stature, short arms and legs, waddling walk, osteoarthritis, and limited range of motion at the elbows and hips.;

Details

Origin ID

C118635;

UMLS CUI

C0410538;

Automatic exact mappings (from CISMeF team)
- Pseudochondroplasia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Pseudoachondroplasia [MeSH concept]
- Pseudoachondroplasia [OMIM Phenotype]
- Pseudoachondroplasia [ORDO Disease]
- Pseudoachondroplasia [PASCAL descriptor]
- Pseudoachondroplasia [ICD-11 Sub-sub category]
- pseudoachondroplasia [MeSH Supplementary Concept]
- pseudoachondroplasia [Disease (Nov.)]
- pseudoachondroplasia [DO Concept]
See also inter- (CISMeF)
- Pseudoachondroplasia [PASCAL descriptor]
- Pseudoachondroplastic dysplasia [ACR pathology]
- Pseudoachondroplastic dysplasia [ACR pathology]
- Pseudoachondroplastic spondyloepiphyseal dysplasia [PASCAL descriptor]
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (disorder) [SNOMED CT concept]
- pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [SNOMED Notion]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple epiphyseal dysplasia and pseudoachondroplasia [ORDO Disease]
- Pseudoachondroplasia [ORDO Disease]
- Pseudoachondroplasia [PASCAL descriptor]
- Pseudoachondroplasia [OMIM Phenotype]
- Pseudoachondroplasia [MeSH concept]
- Pseudoachondroplasia [ICD-11 Sub-sub category]
- Pseudoachondroplastic dysplasia [ACR pathology]
- Pseudoachondroplastic dysplasia [ACR pathology]
- Pseudoachondroplastic spondyloepiphyseal dysplasia [PASCAL descriptor]
- Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome (disorder) [SNOMED CT concept]
- pseudoachondroplasia [DO Concept]
- pseudoachondroplasia [MeSH Supplementary Concept]
- pseudoachondroplasia [Disease (Nov.)]
- pseudoachondroplastic spondyloepiphyseal dysplasia syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- COMP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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