Ectrodactyly-cleft lip-palate syndrome

Preferred Label : Ectrodactyly-cleft lip-palate syndrome;

CISMeF synonym : ectrodactyly-cleft lip/palate syndrome;

MeSH synonym : Walker-Clodius syndrome; EEC syndrome; rudiger syndrome 1; cleft lip-cleft palate-lobster claw deformity syndrome; ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome;

Details

Origin ID

C536189;

UMLS CUI

C0406704;

CISMeF manual mappings
- EEC syndrome [ORDO Disease]
- Ectrodactyly-ectodermal dysplasia without clefting syndrome [ORDO Disease]
- Ectrodactyly-ectodermal dysplasia-clefting syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- EEC syndrome [DO Concept]
- Ectrodactyly - ectodermal dysplasia - cleft lip or palate [ICD-11 More detail]
- Ectrodactyly and ectodermal dysplasia without cleft lip/palate [OMIM Phenotype]
- Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome [NCIt concept]
- ectrodactyly-ectodermal dysplasia-clefting syndrome [SNOMED Notion]
DO Cross reference
- EEC syndrome [DO Concept]
- ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 [DO Concept]
- ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [DO Concept]
MeSH term(s) associated for indexing
- cleft lip [MeSH Descriptor]
- cleft palate [MeSH Descriptor]
- ectodermal dysplasia [MeSH Descriptor]
Ne pas confondre avec
- Ectrodactyly-ectodermal dysplasia without clefting syndrome [ORDO Disease]
Record concept(s)
- Ectrodactyly-cleft lip-palate syndrome [MeSH concept]
See also inter- (CISMeF)
- ectrodactyly ectodermal dysplasia cleft syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- EEC syndrome [ORDO Disease]
- EEC syndrome [DO Concept]
- Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome [NCIt concept]
- Ectrodactyly-ectodermal dysplasia-clefting syndrome (disorder) [SNOMED CT concept]
- Rudiger syndrome [OMIM Phenotype]
- ectrodactyly ectodermal dysplasia cleft syndrome [Disease (Nov.)]
- ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 [DO Concept]
- ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [DO Concept]
- ectrodactyly-ectodermal dysplasia-clefting syndrome [SNOMED Notion]

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