Chondroectodermal dysplasia

Preferred Label : Chondroectodermal dysplasia;

Inclusion CIM-10 : Ellis-van Creveld syndrome;

Rare : true;

Diag associé à un acte (%) : 100.0;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q776;

UMLS CUI

C0013903;

Currated CISMeF NLP mapping
- Chondroectodermal dysplasia [MedDRA Preferred Term]
- Chondroectodermal dysplasia [ICD-11 More detail]
- Chondroectodermal dysplasia [ICD-9 code]
- Chondroectodermal dysplasia [PASCAL descriptor]
- Chondroectodermal dysplasia [ICD-10 Sub-category (who)]
- Chondroectodermal dysplasia (disorder) [SNOMED CT concept]
- Ellis Van Creveld syndrome [ORDO Disease]
- Ellis van Creveld Syndrome [Disease (Nov.)]
- Ellis-Van Creveld Syndrome [NCIt concept]
- Ellis-Van Creveld syndrome [DO Concept]
- Ellis-Van creveld syndrome [MeSH concept]
- Ellis-Van creveld syndrome [MeSH Descriptor]
- Ellis-van Creveld syndrome [MedDRA Preferred Term]
- Ellis-van creveld syndrome [OMIM Phenotype]
- chondroectodermal dysplasia [SNOMED Notion]
DO Cross reference
- Ellis-Van Creveld syndrome [DO Concept]
Excluded by
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
- Ectodermal dysplasia (anhidrotic) [ICD-10 Sub-category]
Orphanet concepts
- Chondroectodermal dysplasia with night blindness [ORDO Disease]
- Ellis Van Creveld syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chondroectodermal dysplasia [MedDRA Preferred Term]
- Chondroectodermal dysplasia [ICD-9 code]
- Chondroectodermal dysplasia [PASCAL descriptor]
- Chondroectodermal dysplasia [ICD-11 More detail]
- Chondroectodermal dysplasia (disorder) [SNOMED CT concept]
- Ellis Van Creveld syndrome [ORDO Disease]
- Ellis van Creveld Syndrome [Disease (Nov.)]
- Ellis-Van Creveld Syndrome [NCIt concept]
- Ellis-Van Creveld syndrome [DO Concept]
- Ellis-Van creveld syndrome [MeSH Descriptor]
- Ellis-Van creveld syndrome [MeSH concept]
- Ellis-van Creveld syndrome [MedDRA Preferred Term]
- Ellis-van creveld syndrome [OMIM Phenotype]
- EvC ciliary complex subunit 1 [ORDO Gene]
- chondroectodermal dysplasia [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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