Preferred Name |
Congenital ichthyosiform erythroderma |
|
Synonyms |
Erythrodermic ichthyosis Non-bullous congenital ichthyosiform erythroderma CIE |
|
Definitions |
A rare autosomal recessive congenital ichthyosis (ARCI) characterized by generalised scaling accompanied by a more or less severe erythroderma, without blister formation. |
|
ID |
http://www.orpha.net/ORDO/Orphanet_79394 |
|
alternative_term |
Erythrodermic ichthyosis Non-bullous congenital ichthyosiform erythroderma CIE |
|
definition |
A rare autosomal recessive congenital ichthyosis (ARCI) characterized by generalised scaling accompanied by a more or less severe erythroderma, without blister formation. |
|
definition_citation |
Orphanet |
|
expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79394 |
|
has_age_of_onset |
Infancy Neonatal |
|
has_inheritance |
Autosomal recessive |
|
hasDbXref |
ICD-10:Q80.2 ICD-11:EC20.02 OMIM:615023 OMIM:615024 OMIM:615022 UMLS:C0079154 OMIM:242100 OMIM:612281 OMIM:606545 |
|
label |
Congenital ichthyosiform erythroderma |
|
notation |
ORPHA:79394 |
|
part_of | ||
prefixIRI |
ORDO:Orphanet_79394 |
|
prefLabel |
Congenital ichthyosiform erythroderma |
|
present_in |
Spain AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 |
|
treeView | ||
subClassOf |