The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. [ Orphanet:79373 ]
Synonyms: ectodermal dysplasia congenital ectodermal defect ectodermal dysplasia (select examples)
Term information
- MedDRA:10010452 (Orphanet:79373/e)
- NCIT:C84683 (MONDO:equivalentTo)
- MESH:D004476 (Orphanet:79373/e)
- DOID:2121 (MONDO:equivalentTo)
- SCTID:8654005 (MONDO:equivalentTo)
- OMIMPS:305100 (MONDO:equivalentTo)
- ICD9:757.31 (MONDO:i2s)
- UMLS:C0013575 (Orphanet:79373/e)
- Orphanet:79373 (MONDO:equivalentTo)
- GARD:6317 (Orphanet:79373)
gard_rare, disease_grouping, rare, nord_rare, orphanet_rare, ordo_group_of_disorders
http://linkedlifedata.com/resource/umls/id/C0013575
http://identifiers.org/snomedct/8654005
http://identifiers.org/mesh/D004476
https://omim.org/phenotypicSeries/PS305100
http://www.orpha.net/ORDO/Orphanet_79373
http://purl.obolibrary.org/obo/DOID_2121
http://purl.obolibrary.org/obo/NCIT_C84683