Chondrodysplasia punctata, X-linked dominant

Preferred Label : Chondrodysplasia punctata, X-linked dominant;

ICD-11 definition : X-linked dominant chondrodysplasia punctata (CDPX2), also known as Conradi-Hünermann-Happle syndrome, is a rare form of skeletal dysplasia that affects the skeleton producing short stature, asymmetric shortening of the limbs and scoliosis, as well as affecting the skin, hair and eyes.;

ICD-11 synonym : Conradi-Hünermann-Happle syndrome; Sterol D8-D7 isomerase deficiency; Calcinosis universalis; CDPX2 - [Chondrodysplasia punctata, X-linked dominant]; Chondrodystrophia calcificans congenita;

ICD-11 acronym : CDPX2;

Details

Origin ID

1162313566;

UMLS CUI

C0282102;

Automatic exact mappings (from CISMeF team)
- Calcinosis universalis (disorder) [SNOMED CT concept]
- EBP cholestenol delta-isomerase [ORDO Gene]
- calcinosis universalis [SNOMED Notion]
Currated CISMeF NLP mapping
- Chondrodysplasia punctata 2, X-linked dominant [OMIM Phenotype]
- X-linked chondrodysplasia punctata 1 [DO Concept]
- X-linked dominant chondrodysplasia punctata [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chondrodysplasia punctata 2, X-linked dominant [OMIM Phenotype]
- Chondrodysplasia punctata, Conradi-Hünermann type (disorder) [SNOMED CT concept]
- Chondrodysplasia punctata, X-linked dominant type (disorder) [SNOMED CT concept]
- Conradi-Huenermann syndrome [MedDRA Preferred Term]
- Conradi-Huenermann syndrome [MedDRA LLT]
- Conradi-Hunermann syndrome [Disease (Nov.)]
- Hunermann-Conradi syndrome [MeSH concept]
- X-linked chondrodysplasia punctata 1 [DO Concept]
- X-linked dominant chondrodysplasia punctata [ORDO Disease]
- chondrodysplasia punctata, conradi-hunermann type [SNOMED Notion]
Validated automatic mappings to BTNT
- Chondrodysplasia punctata, X-linked dominant type (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- chondrodysplasia punctata [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients