superficial epidermolytic ichthyosis
Go to external page http://purl.obolibrary.org/obo/MONDO_0007813
Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth. [ Orphanet:455 ]
Synonyms: ichthyosis bullosa of Siemens superficial epidermolytic ichthyosis SEI bullous type ichthyosis
Term information
- Orphanet:455 (OMIM:146800)
- NANDO:1200613 (https://orcid.org/0000-0003-0011-764X)
- UMLS:C0432306 (MONDO:equivalentTo)
- SCTID:254169002 (MONDO:equivalentTo)
- MEDGEN:98153 (MONDO:equivalentTo)
- NANDO:2200990 (https://orcid.org/0000-0003-0011-764X)
- MESH:D053560 (Orphanet:455/e)
- GARD:2966 (MONDO:GARD)
- DOID:0060877 (MONDO:equivalentTo)
- OMIM:146800 (Orphanet:455/e)
- NCIT:C84777 (MONDO:equivalentTo)
ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare
http://www.orpha.net/ORDO/Orphanet_455
http://identifiers.org/medgen/98153
http://purl.obolibrary.org/obo/DOID_0060877
http://identifiers.org/mesh/D053560
https://omim.org/entry/146800
http://linkedlifedata.com/resource/umls/id/C0432306
http://purl.obolibrary.org/obo/NCIT_C84777
http://identifiers.org/snomedct/254169002