A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic. [ Orphanet:312 ]
Synonyms: BCIE epidermolytic hyperkeratosis EI bullous ichthyosis ichthyosis hystrix Brocq type EHK bullous congenital ichthyosiform erythroderma epidermolytic palmoplantar hyperkeratosis epidermolytic ichthyosis bullous congenital ichthyosiform erythroderma of Brock
Term information
- NORD:1100 (MONDO:NORD)
- MESH:D017488 (MONDO:equivalentTo)
- SCTID:254167000 (MONDO:equivalentTo)
- DOID:4603 (MONDO:equivalentTo)
- icd11.foundation:1183730789 (MONDO:equivalentTo)
- OMIMPS:113800 (MONDO:equivalentTo)
- MEDGEN:38179 (MONDO:equivalentTo)
- UMLS:C0079153 (MONDO:equivalentTo)
gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, otar, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_integumentary_system_disorder, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, mondo_top_grouping_member, matrix_llm__txgnn_other, mondo_top_grouping_hereditary_disease, nord_rare, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_integumentary_system_disorder
http://purl.obolibrary.org/obo/DOID_4603
http://identifiers.org/medgen/38179
http://identifiers.org/mesh/D017488
https://omim.org/phenotypicSeries/PS113800
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1183730789
http://linkedlifedata.com/resource/umls/id/C0079153
http://identifiers.org/snomedct/254167000
congenital bullous ichthyosiform erythroderma
bullous ichthyosiform erythroderma
bullous erythroderma Ichthyosiformis congenita of Brocq
bullous ichthyosiform erythroderma congenita