Ellis-Van creveld syndrome

Preferred Label : Ellis-Van creveld syndrome;

MeSH definition : Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed);

MeSH synonym : chondroectodermal dysplasias; chondroectodermal dysplasia; syndrome, ellis-van creveld; dysplasia, chondroectodermal; ellis van creveld syndrome; Ellis-Van creveld dysplasia; dysplasia, Ellis-Van creveld; ellis van creveld dysplasia; Mesoectodermal Dysplasia; Dysplasia, Mesoectodermal; Mesoectodermal Dysplasias;

CISMeF synonym : Ellis-Van creveld's syndrome; creveld dysplasia, Ellis-Van; dysplasias, chondroectodermal;

Wikipedia automatic translation : Ellis–Van Creveld syndrome;

MeSH annotation : do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

Wikipedia link : https://en.wikipedia.org/wiki/Ellis–Van Creveld syndrome;

Details

Origin ID

D004613;

UMLS CUI

C0013903;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Chondroectodermal dysplasia [ICD-10 Sub-category]
- Chondroectodermal dysplasia [ICD-11 More detail]
- Chondroectodermal dysplasia [ICD-9 code]
- 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 [NCIt concept]
- Ellis-Van Creveld syndrome [DO 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]
DO Cross reference
- Ellis-Van Creveld syndrome [DO Concept]
Indexing information
- EVC2 protein, human [MeSH Supplementary Concept]
- evc protein, rat [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Chondrodysplastic malformation syndrome [ORDO Disease]
- Ciliopathies with major skeletal involvement [ORDO Disease]
- Ectodermal dysplasia syndrome [ORDO Disease]
- Rare syndrome with cardiac malformations [ORDO Disease]
- Renal ciliopathy [ORDO Disease]
- Retinal ciliopathy [ORDO Disease]
- Zlotogura-Martinez syndrome [ORDO Disease]
ORDO relation(s)
- Ellis Van Creveld syndrome [ORDO Disease]
Record concept(s)
- Ellis-Van creveld syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- asphyxiating thoracic dystrophy 2 [MeSH Supplementary Concept]
- jeune syndrome [MeSH Supplementary Concept]
- jeune syndrome situs inversus [MeSH Supplementary Concept]
See also
- cartilage diseases [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chondroectodermal dysplasia [ICD-10 Sub-category]
- Chondroectodermal dysplasia [MedDRA Preferred Term]
- Chondroectodermal dysplasia [ICD-10 Sub-category (who)]
- Chondroectodermal dysplasia [ICD-9 code]
- Chondroectodermal dysplasia [ICD-11 More detail]
- 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 [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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