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PMO Precision Medicine Ontology
Last uploaded:
December 16, 2020
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| Preferred Name | Congenital Bullous Ichthyosiform Erythroderma | |
| Synonyms |
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| Definitions |
An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized, erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00009395 |
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| Database_Cross_Reference |
SNOMEDCT_US:254167000 DO:DOID:4603 MDR:10006562 ICD10CM:Q80.3 MTH:NOCODE NCI:C62569 OMIM:139350 ICD10:Q80.3 CHV:0000030837 MDR:10078292 OMIM:MTHU049753 ICD10AM:Q80.3 SNOMEDCT_US:20512000 CHV:0000015117 OMIM:113800 SNOMEDCT_US:239071005 MEDCIN:331130 RCD:X78CI SNM:D-3678 NDFRT:N0000003584 MDR:10014990 MSH:D017488 OMIM:148080 HPO:HP:0007475 SNMI:D4-40111
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| Definition |
An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized, erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet.
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| equivalentClass | ||
| label |
Congenital Bullous Ichthyosiform Erythroderma
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| MCID |
MC00041034
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| PMOID |
PMO:00009395
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| prefixIRI |
pmo:PMO_00009395
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| prefLabel |
Congenital Bullous Ichthyosiform Erythroderma
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| Synonym |
Ichthyosiform Erythroderma, Bullous BIE - Bull ichthy erythroderma Dominant ichthyosis vulgaris BCIE Epidermolytic Ichthyosis CONGEN BULLOUS ICHTHYOSIFORM ERYTHRODERMA Hyperkeratosis, Epidermolytic [Disease/Finding] Dominant congenital ichthyosiform erythroderma BIE Bullous ichthyosiform erythroderma Ichthyosiformes, Bullous Erythroderma Bullous Congenital Ichthyosiform Erythroderma Ichthyosiforme, Bullous Erythroderma BIE - Bullous ichthyosiform erythroderma EHK Bull ichthyosform erythroderma Bullous Erythroderma Ichthyosiforme Epidermolytic hyperkeratosis Hyperkeratoses, Epidermolytic Erythroderma Ichthyosiforme, Bullous Ichthyosiform Erythroderma, Bullous Congenital congenital bullous ichthyosiform erythroderma (diagnosis) Epidermolytic Hyperkeratoses Erythroderma Ichthyosiformes, Bullous Hyperkeratosis, Epidermolytic Erythroderma, Bullous Ichthyosiform Ichthyosiform Erythrodermas, Bullous Erythrodermas, Bullous Ichthyosiform Bullous Ichthyosiform Erythrodermas BULLOUS CONGEN ICHTHYOSIFORM ERYTHRODERMA Bullous Erythroderma Ichthyosiformes Bullous Erythroderma Ichthyosiformis Congenita of Brocq Epidermolytic palmoplantar hyperkeratosis ICHTHYOSIFORM ERYTHRODERMA BULLOUS CONGEN Bullous ichthyosiform erythroderma (disorder) Congenital bullous ichthyosiform erythroderma Congenital ichthyosiform erythroderma, bullous Bullous Ichthyosiform Erythroderma Congenital
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| Tree Number |
T3.14.1.1.9.1.7.3.2
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