ectrodactyly-ectodermal dysplasia-clefting syndrome - CISMeF

" /> ectrodactyly-ectodermal dysplasia-clefting syndrome - CISMeF

CISMeF

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Ectrodactyly-ectodermal dysplasia-clefting syndromeSNOMED Notion

Preferred Label : ectrodactyly-ectodermal dysplasia-clefting syndrome;

Details

Origin ID

D4-00818;

UMLS CUI

C0406704;

CISMeF manual mappings
- Ectrodactyly-ectodermal dysplasia without clefting syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- EEC syndrome [DO Concept]
- EEC syndrome [ORDO Disease]
- Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome [NCIt concept]
- Ectrodactyly-cleft lip-palate syndrome [MeSH concept]
- Ectrodactyly-cleft lip-palate syndrome [MeSH Supplementary Concept]
- Ectrodactyly-ectodermal dysplasia-clefting syndrome (disorder) [SNOMED CT concept]
- ectrodactyly ectodermal dysplasia cleft syndrome [Disease (Nov.)]
ICD-10 exact mapping(s)
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- EEC syndrome and related disorders [ORDO Disease]
- Ectodermal dysplasia syndrome [ORDO Disease]
- Non-syndromic limb reduction defect [ORDO Disease]
- Secondary entropion [ORDO Disease]
- Syndrome or malformation associated with head and neck malformations [ORDO Disease]
- Syndrome with limb malformations as a major feature [ORDO Disease]
- Syndromic renal or urinary tract malformation [ORDO Disease]
- Zlotogura-Martinez syndrome [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
Ne pas confondre avec
- Ectrodactyly-ectodermal dysplasia without clefting syndrome [ORDO Disease]
SNOMED CT concept
- Ectrodactyly-ectodermal dysplasia-clefting syndrome (disorder) [SNOMED CT concept]
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-cleft lip-palate syndrome [MeSH Supplementary Concept]
- Ectrodactyly-cleft lip-palate syndrome [MeSH 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]

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25/05/2025

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