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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3307248019 Epidermolysis bullosa simplex with circinate migratory erythema en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401372015 A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401373013 A rare, inherited, epidermolysis bullosa simplex characterised by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3307247012 Epidermolysis bullosa simplex with circinate migratory erythema (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3307247012 Epidermolysis bullosa simplex with circinate migratory erythema (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3307248019 Epidermolysis bullosa simplex with circinate migratory erythema en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3307248019 Epidermolysis bullosa simplex with circinate migratory erythema en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5401372015 A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401373013 A rare, inherited, epidermolysis bullosa simplex characterised by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3431051001000114 Epidermolysis bullosa simplex mit ringförmigem Erythema migrans de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
938441000172119 epidermolyse bulleuse simple avec érythème circiné migratoire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
939491000172117 EBS-migr - epidermolyse bulleuse simple avec érythème circiné migratoire fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
938441000172119 epidermolyse bulleuse simple avec érythème circiné migratoire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
939491000172117 EBS-migr - epidermolyse bulleuse simple avec érythème circiné migratoire fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3431051001000114 Epidermolysis bullosa simplex mit ringförmigem Erythema migrans de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth. Is a Autosomal dominant epidermolysis bullosa simplex (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth. Finding site Connective tissue structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth. Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth. Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth. Associated morphology Epidermolysis (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth. Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth. Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth. Associated morphology Epidermolysis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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