Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma. [ Orphanet:304 ]
Synonyms: EEB EBS epidermolysis bullosa simplex
Term information
- NANDO:1200235 (https://orcid.org/0000-0003-0011-764X)
- ICD10CM:Q81.0 (Orphanet:304/specific)
- icd11.foundation:1860717527 (Orphanet:304)
- NCIT:C84692 (MONDO:equivalentTo)
- OMIMPS:131760 (MONDO:equivalentTo)
- MESH:D016110 (MONDO:equivalentTo)
- MEDGEN:86896 (MONDO:equivalentTo)
- ICD9:757.39 (MONDO:relatedTo)
- DOID:4644 (MONDO:equivalentTo)
- NANDO:2201375 (https://orcid.org/0000-0003-0011-764X)
- Orphanet:304 (MONDO:equivalentTo)
- NANDO:2201341 (https://orcid.org/0000-0003-0011-764X)
- GARD:10752 (MONDO:GARD)
- UMLS:C0079298 (MONDO:equivalentTo)
- SCTID:67144006 (MONDO:equivalentTo)
gard_rare, otar, disease_grouping, rare, nord_rare, ordo_group_of_disorders
https://omim.org/phenotypicSeries/PS131760
http://purl.obolibrary.org/obo/NCIT_C84692
http://www.orpha.net/ORDO/Orphanet_304
http://purl.obolibrary.org/obo/DOID_4644
http://linkedlifedata.com/resource/umls/id/C0079298
http://identifiers.org/medgen/86896
http://identifiers.org/mesh/D016110
http://purl.bioontology.org/ontology/ICD10CM/Q81.0
http://identifiers.org/snomedct/67144006