Chondroectodermal dysplasia

Preferred Label : Chondroectodermal dysplasia;

ICD-11 definition : Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects (abnormalities of atrial septation).;

ICD-11 synonym : Mesodermic dysplasia; Ellis-van Creveld syndrome; EVC - [Ellis-van Creveld] syndrome; EVC syndrome;

CISMeF acronym : EVC;

Details

Origin ID

278346811;

UMLS CUI

C0013903;

Automatic exact mappings (from CISMeF team)
- Evc ciliary complex subunit 1 [OMIM gene]
- Expiratory Vital Capacity [NCIt concept]
- persistent vegetative state [MeSH Descriptor]
Currated CISMeF NLP mapping
- Chondroectodermal dysplasia [PASCAL descriptor]
- Chondroectodermal dysplasia [MedDRA Preferred Term]
- Chondroectodermal dysplasia [ICD-9 code]
- Chondroectodermal dysplasia [ICD-10 Sub-category]
- 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 Descriptor]
- Ellis-Van creveld syndrome [MeSH concept]
- Ellis-van Creveld syndrome [MedDRA Preferred Term]
- Ellis-van creveld syndrome [OMIM Phenotype]
- chondroectodermal dysplasia [SNOMED Notion]
See also inter- (CISMeF)
- EvC ciliary complex subunit 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chondroectodermal dysplasia [ICD-9 code]
- Chondroectodermal dysplasia [ICD-10 Sub-category]
- Chondroectodermal dysplasia [MedDRA Preferred Term]
- Chondroectodermal dysplasia [PASCAL descriptor]
- 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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