Hajdu-Cheney Syndrome

Preferred Label : Hajdu-Cheney Syndrome;

NCIt definition : A very rare inherited connective tissue disorder characterized by osteoporosis, skull deformities, short stature, and bone flexibility.;

Details

Origin ID

C84745;

UMLS CUI

C0917715;

Automatic exact mappings (from CISMeF team)
- Acroosteolysis, dominant type [ICD-11 More detail]
- Hajdu-Cheney syndrome [DO Concept]
Currated CISMeF NLP mapping
- Acroosteolysis dominant type [MeSH concept]
- Hajdu Cheney syndrome [Disease (Nov.)]
- Hajdu-Cheney syndrome [ORDO Disease]
- Hajdu-Cheney syndrome [MeSH concept]
- Hajdu-Cheney syndrome (disorder) [SNOMED CT concept]
- Hajdu-cheney syndrome [OMIM Phenotype]
- acroosteolysis dominant type [MeSH Supplementary Concept]
- hajdu-cheney syndrome [MeSH Descriptor]
- hajdu-cheney syndrome [SNOMED Notion]
DO Cross reference
- Hajdu-Cheney syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hajdu Cheney syndrome [Disease (Nov.)]
- Hajdu-Cheney syndrome [MeSH concept]
- Hajdu-Cheney syndrome (disorder) [SNOMED CT concept]
- Hajdu-cheney syndrome [OMIM Phenotype]
- hajdu-cheney syndrome [MeSH Descriptor]
- hajdu-cheney syndrome [SNOMED Notion]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- NOTCH2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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