ectodermal dysplasia, ectrodactyly, and macular dystrophy

Preferred Label : ectodermal dysplasia, ectrodactyly, and macular dystrophy;

MeSH synonym : EEM syndrome; ectodermal Dysplasia-Ectrodactyly-Macular dystrophy;

Details

Origin ID

C536190;

UMLS CUI

C1857041;

Automatic exact mappings (from CISMeF team)
- Ectodermal dysplasia - ectrodactyly - macular dystrophy [ICD-11 More detail]
- ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome [DO Concept]
Currated CISMeF NLP mapping
- EEM syndrome [Disease (Nov.)]
- EEM syndrome [ORDO Disease]
- Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) [SNOMED CT concept]
- Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- ectodermal dysplasia [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- macular degeneration [MeSH Descriptor]
Record concept(s)
- Ectodermal dysplasia, ectrodactyly, and macular dystrophy [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- EEM syndrome [ORDO Disease]
- EEM syndrome [Disease (Nov.)]
- Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) [SNOMED CT concept]
- Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome [OMIM Phenotype]

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