Campomelic Dysplasia

Preferred Label : Campomelic Dysplasia;

NCIt related terms : CMD;

NCIt definition : A genetic congenital disorder characterized by bowing and angulation of the long bones. It may be associated with other skeletal and extraskeletal defects.;

Alternative definition : NICHD: A condition associated with heterozygous mutation(s) in the SOX9 gene, characterized in 46,XY individuals by atypical development of the gonads (sex reversal), internal and external reproductive structures, with (campomelic) or without (acampomelic) skeletal dysplasia.;

Details

Origin ID

C84609;

UMLS CUI

C1861922;

Automatic exact mappings (from CISMeF team)
- Campomelic dysplasia [ICD-11 More detail]
- Congenital muscular dystrophy [ORDO Disease]
- Craniometaphyseal dysplasia [ORDO Disease]
- Craniometaphyseal dysplasia, autosomal dominant [OMIM Phenotype]
- cardiomyopathy, dilated [MeSH Descriptor]
Currated CISMeF NLP mapping
- Campomelic dysplasia [PASCAL descriptor]
- Campomelic dysplasia [OMIM Phenotype]
- Campomelic dysplasia [ORDO Disease]
- Camptomelic dysplasia (disorder) [SNOMED CT concept]
- campomelic dysplasia [DO Concept]
- campomelic dysplasia [Disease (Nov.)]
- campomelic dysplasia [MeSH Descriptor]
- campomelic dysplasia [MeSH concept]
- camptomelic dysplasia [SNOMED Notion]
DO Cross reference
- campomelic dysplasia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Campomelic dysplasia [ORDO Disease]
- Campomelic dysplasia [OMIM Phenotype]
- Campomelic dysplasia [PASCAL descriptor]
- Campomelic syndrome [MedDRA Preferred Term]
- Camptomelic dysplasia (disorder) [SNOMED CT concept]
- campomelic dysplasia [DO Concept]
- campomelic dysplasia [Disease (Nov.)]
- campomelic dysplasia [MeSH concept]
- campomelic dysplasia [MeSH Descriptor]
- camptomelic dysplasia [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SOX9 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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