Ghosal haematodiaphyseal dysplasia

Preferred Label : Ghosal haematodiaphyseal dysplasia;

ICD-11 definition : Ghosal hematodiaphyseal dysplasia syndrome is a rare genetic disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.;

Details

Origin ID

21849048;

UMLS CUI

C1856465;

Currated CISMeF NLP mapping
- Diaphyseal dysplasia with anemia [PASCAL descriptor]
- Ghosal hematodiaphyseal dysplasia [ORDO Disease]
- Ghosal hematodiaphyseal dysplasia [OMIM Phenotype]
- Ghosal hematodiaphyseal dysplasia (disorder) [SNOMED CT concept]
- Ghosal hematodiaphyseal syndrome [DO Concept]
- Ghosal syndrome [Disease (Nov.)]
- ghosal hematodiaphyseal dysplasia [MeSH concept]
- ghosal hematodiaphyseal dysplasia [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Ghosal hematodiaphyseal dysplasia [OMIM Phenotype]
- Ghosal hematodiaphyseal dysplasia [ORDO Disease]
- Ghosal hematodiaphyseal dysplasia (disorder) [SNOMED CT concept]
- Ghosal syndrome [Disease (Nov.)]
- ghosal hematodiaphyseal dysplasia [MeSH concept]
- ghosal hematodiaphyseal dysplasia [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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