Ellis-Van Creveld Syndrome

Preferred Label : Ellis-Van Creveld Syndrome;

NCIt related terms : Chondroectodermal Dysplasia;

NCIt definition : A rare autosomal recessive syndrome caused by mutations in the EVC gene. It is characterized by dwarfism, small chest, ectodermal dysplasia, and postaxial polydactyly. There is an increased frequency of congenital heart malformations.;

Details

Origin ID

C84684;

UMLS CUI

C0013903;

Currated CISMeF NLP mapping
- Chondroectodermal dysplasia [MedDRA Preferred Term]
- Chondroectodermal dysplasia [ICD-10 Sub-category (who)]
- Chondroectodermal dysplasia [PASCAL descriptor]
- Chondroectodermal dysplasia [ICD-10 Sub-category]
- Chondroectodermal dysplasia [ICD-11 More detail]
- Chondroectodermal dysplasia [ICD-9 code]
- Chondroectodermal dysplasia (disorder) [SNOMED CT concept]
- Ellis Van Creveld syndrome [ORDO Disease]
- Ellis van Creveld Syndrome [Disease (Nov.)]
- 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]
DO Cross reference
- Ellis-Van Creveld syndrome [DO Concept]
False automatic mappings
- EvC ciliary complex subunit 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chondroectodermal dysplasia [ICD-10 Sub-category]
- Chondroectodermal dysplasia [ICD-9 code]
- Chondroectodermal dysplasia [ICD-11 More detail]
- Chondroectodermal dysplasia [PASCAL descriptor]
- Chondroectodermal dysplasia [ICD-10 Sub-category (who)]
- Chondroectodermal dysplasia [MedDRA Preferred Term]
- Chondroectodermal dysplasia (disorder) [SNOMED CT concept]
- Ellis Van Creveld syndrome [ORDO Disease]
- Ellis van Creveld Syndrome [Disease (Nov.)]
- 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]
- EvC ciliary complex subunit 1 [ORDO Gene]
- chondroectodermal dysplasia [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- EVC Gene [NCIt concept]
- EVC2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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