Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome

Preferred Label : Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome;

NCIt synonyms : EEC Syndrome;

NCIt definition : A rare form of ectodermal dysplasia, inherited in an autosomal dominant fashion, manifesting with varying degrees of severity, ectrodactyly and cleft lip/palate.;

Details

Origin ID

C148261;

UMLS CUI

C0406704;

Automatic exact mappings (from CISMeF team)
- Exstrophy-epispadias complex [ORDO Disease]
Currated CISMeF NLP mapping
- EEC syndrome [ORDO Disease]
- EEC syndrome [DO Concept]
- Ectrodactyly - ectodermal dysplasia - cleft lip or palate [ICD-11 More detail]
- Ectrodactyly-cleft lip-palate syndrome [MeSH Supplementary Concept]
- Ectrodactyly-cleft lip-palate syndrome [MeSH concept]
- Ectrodactyly-ectodermal dysplasia-clefting syndrome (disorder) [SNOMED CT concept]
- ectrodactyly ectodermal dysplasia cleft syndrome [Disease (Nov.)]
- 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]
Has associated anatomic sites
- Integumentary System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- EEC syndrome [DO Concept]
- EEC syndrome [ORDO Disease]
- Ectrodactyly-cleft lip-palate syndrome [MeSH concept]
- Ectrodactyly-cleft lip-palate syndrome [MeSH Supplementary 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]
Validated automatic mappings to BTNT
- ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 [DO Concept]
- ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Cutaneous Involvement [NCIt concept]

Keyword's position in hierarchy(ies) :

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