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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| 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
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|
| definition |
A rare autosomal recessive congenital ichthyosis (ARCI) characterized by generalised scaling accompanied by a more or less severe erythroderma, without blister formation.
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|
| definition_citation |
Orphanet
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|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79394 |
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| has_age_of_onset |
Infancy Neonatal
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|
| has_inheritance |
Autosomal recessive
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|
| hasDbXref |
ICD-10:Q80.2 ICD-11:EC20.02 OMIM:615023 OMIM:615024 OMIM:615022 UMLS:C0079154 OMIM:242100 OMIM:612281 OMIM:606545
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|
| label |
Congenital ichthyosiform erythroderma
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|
| notation |
ORPHA:79394
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|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_79394
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|
| prefLabel |
Congenital ichthyosiform erythroderma
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|
| 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
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| treeView | ||
| subClassOf |
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