Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. [ Orphanet:281139 ]
Synonyms: AEI ichthyosis, annular epidermolytic
Term information
- icd11.foundation:280058464 (MONDO:equivalentTo)
- UMLS:C1843463 (MONDO:equivalentTo)
- MESH:C564367 (MONDO:equivalentTo)
- OMIMPS:607602 (MONDO:equivalentTo)
- MEDGEN:334410 (MONDO:equivalentTo)
- SCTID:718631006 (MONDO:equivalentTo)
- Orphanet:281139 (OMIM:607602)
- GARD:17304 (MONDO:GARD)
matrix_llm__is_cancer_other, ordo_disorder, gard_rare, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, mondo_top_grouping_integumentary_system_disorder, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, nord_rare, matrix_included, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease, orphanet_rare, harrisons_view_integumentary_system_disorder
http://www.orpha.net/ORDO/Orphanet_281139
https://omim.org/phenotypicSeries/PS607602
http://identifiers.org/snomedct/718631006
http://linkedlifedata.com/resource/umls/id/C1843463
http://identifiers.org/medgen/334410
http://identifiers.org/mesh/C564367
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/280058464
Ciehk
ichthyosis, cyclic, with epidermolytic hyperkeratosis
epidermolytic ichthyosis, annular