Cleidocranial Dysplasia

Preferred Label : Cleidocranial Dysplasia;

NCIt synonyms : Cleidocranial Dysostosis;

NCIt definition : A rare autosomal dominant disorder caused by mutations in the RUNX2 gene. It is characterized by developmental abnormalities in the bones and teeth, including the complete or partial absence of the clavicles, delayed closure of the fontanels, protruding mandible, hypertelorism, scoliosis, and short stature.;

Alternative definition : NICHD: A rare autosomal dominant condition caused by mutation(s) in the RUNX2 gene, encoding runt-related transcription factor 2. This condition is characterized by developmental abnormalities in the bones and teeth, including the complete or partial absence of the clavicles, delayed closure of the fontanels, protruding mandible, hypertelorism, scoliosis, and short stature.;

Details

Origin ID

C75020;

UMLS CUI

C0008928;

Automatic exact mappings (from CISMeF team)
- Cleidocranial dysplasia [ICD-11 More detail]
- Other congenital malformations of upper limb(s), including shoulder girdle [ICD-10 Sub-category]
- Other congenital malformations of upper limb(s), including shoulder girdle [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Cleidocranial dysostosis [MedDRA Preferred Term]
- Cleidocranial dysostosis (disorder) [SNOMED CT concept]
- Cleidocranial dysplasia [PASCAL descriptor]
- Cleidocranial dysplasia [ACR pathology]
- Cleidocranial dysplasia [MedDRA LLT]
- Cleidocranial dysplasia [ACR pathology]
- Cleidocranial dysplasia [ORDO Disease]
- Cleidocranial dysplasia 1 [OMIM Phenotype]
- Cleidocranial dysplasia and isolated cranial ossification defect [ORDO Disease]
- cleidocranial dysplasia [DO Concept]
- cleidocranial dysplasia [Disease (Nov.)]
- cleidocranial dysplasia [MeSH Descriptor]
- cleidocranial dysplasia [MeSH concept]
DO Cross reference
- cleidocranial dysplasia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cleidocranial dysostosis [MedDRA Preferred Term]
- Cleidocranial dysostosis (disorder) [SNOMED CT concept]
- Cleidocranial dysplasia [ORDO Disease]
- Cleidocranial dysplasia [MedDRA LLT]
- Cleidocranial dysplasia [PASCAL descriptor]
- Cleidocranial dysplasia [ACR pathology]
- Cleidocranial dysplasia [ACR pathology]
- Cleidocranial dysplasia 1 [OMIM Phenotype]
- Cleidocranial dysplasia and isolated cranial ossification defect [ORDO Disease]
- cleidocranial dysostosis [SNOMED Notion]
- cleidocranial dysplasia [DO Concept]
- cleidocranial dysplasia [Disease (Nov.)]
- cleidocranial dysplasia [MeSH Descriptor]
- cleidocranial dysplasia [MeSH concept]
Validated automatic mappings to BTNT
- cleidocranial dysostosis [SNOMED Notion]
associated_with_malfunction_of_gene_product
- Runt-Related Transcription Factor 2 [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_associated_gene
- RUNX2 Gene [NCIt concept]
- RUNX2 wt Allele [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- RUNX2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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