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716700003: Epidermolysis bullosa simplex with circinate migratory erythema (disorder)


Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3307247012 Epidermolysis bullosa simplex with circinate migratory erythema (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3307248019 Epidermolysis bullosa simplex with circinate migratory erythema en Synonym Active Case insensitive SNOMED CT core
3307249010 A basal subtype of epidermolysis bullosa simplex with manifestation of belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. Prevalence is unknown but 2 families have been reported to date. Onset of the disease is usually at birth. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. The disease is due to a specific mutation in the KRT5 (12q13.13) gene, encoding keratin 5. Transmission is autosomal dominant. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Epidermolysis bullosa simplex with circinate migratory erythema Finding site Skin structure true Inferred relationship Some 1
Epidermolysis bullosa simplex with circinate migratory erythema Associated morphology Epidermolysis true Inferred relationship Some 1
Epidermolysis bullosa simplex with circinate migratory erythema Occurrence Congenital true Inferred relationship Some 1
Epidermolysis bullosa simplex with circinate migratory erythema Pathological process Pathological developmental process true Inferred relationship Some 1
Epidermolysis bullosa simplex with circinate migratory erythema Is a Autosomal dominant epidermolysis bullosa simplex true Inferred relationship Some
Epidermolysis bullosa simplex with circinate migratory erythema Finding site Connective tissue structure false Inferred relationship Some
Epidermolysis bullosa simplex with circinate migratory erythema Associated morphology Developmental abnormality false Inferred relationship Some 3
Epidermolysis bullosa simplex with circinate migratory erythema Occurrence Congenital false Inferred relationship Some 3
Epidermolysis bullosa simplex with circinate migratory erythema Finding site Skin structure false Inferred relationship Some 3
Epidermolysis bullosa simplex with circinate migratory erythema Associated morphology Epidermolysis false Inferred relationship Some 4
Epidermolysis bullosa simplex with circinate migratory erythema Finding site Skin structure false Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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