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399971009: Junctional epidermolysis bullosa (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1767891015 Junctional epidermolysis bullosa (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1779250019 Junctional epidermolysis bullosa en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
908341000172116 epidermolyse bulleuse jonctionnelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
912171000172112 EBJ - epidermolyse bulleuse jonctionnelle fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3383731001000119 Epidermolysis bullosa, junktionale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


14 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Junctional epidermolysis bullosa (disorder) Is a Epidermolysis bullosa true Inferred relationship Some
Junctional epidermolysis bullosa (disorder) Associated morphology A fluid-filled, raised, often translucent lesion, greater than 1 cm in diameter false Inferred relationship Some 1
Junctional epidermolysis bullosa (disorder) Associated morphology anomalie congénitale false Inferred relationship Some 2
Junctional epidermolysis bullosa (disorder) Finding site Skin structure false Inferred relationship Some 1
Junctional epidermolysis bullosa (disorder) Occurrence Congenital false Inferred relationship Some
Junctional epidermolysis bullosa (disorder) Finding site Connective tissue structure false Inferred relationship Some
Junctional epidermolysis bullosa (disorder) Associated morphology Epidermolysis true Inferred relationship Some 1
Junctional epidermolysis bullosa (disorder) Associated morphology Keratolysis false Inferred relationship Some 1
Junctional epidermolysis bullosa (disorder) Finding site Skin structure false Inferred relationship Some 2
Junctional epidermolysis bullosa (disorder) Finding site Skin structure false Inferred relationship Some 1
Junctional epidermolysis bullosa (disorder) Finding site Skin structure false Inferred relationship Some 2
Junctional epidermolysis bullosa (disorder) Finding site Skin structure false Inferred relationship Some 2
Junctional epidermolysis bullosa (disorder) Finding site Skin structure false Inferred relationship Some 1
Junctional epidermolysis bullosa (disorder) Finding site Skin structure false Inferred relationship Some 1
Junctional epidermolysis bullosa (disorder) Finding site Skin structure false Inferred relationship Some 2
Junctional epidermolysis bullosa (disorder) Finding site Skin structure false Inferred relationship Some 1
Junctional epidermolysis bullosa (disorder) Finding site Skin structure false Inferred relationship Some 2
Junctional epidermolysis bullosa (disorder) Finding site Skin structure true Inferred relationship Some 1
Junctional epidermolysis bullosa (disorder) Finding site Skin structure false Inferred relationship Some 2
Junctional epidermolysis bullosa (disorder) Occurrence Congenital false Inferred relationship Some 3
Junctional epidermolysis bullosa (disorder) Associated morphology anomalie du développement false Inferred relationship Some 3
Junctional epidermolysis bullosa (disorder) Finding site Skin structure false Inferred relationship Some 3
Junctional epidermolysis bullosa (disorder) Occurrence Congenital true Inferred relationship Some 1
Junctional epidermolysis bullosa (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Junctional epidermolysis bullosa (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Localised junctional epidermolysis bullosa Is a True Junctional epidermolysis bullosa (disorder) Inferred relationship Some
Generalized junctional epidermolysis bullosa Is a True Junctional epidermolysis bullosa (disorder) Inferred relationship Some
Adult junctional epidermolysis bullosa Is a False Junctional epidermolysis bullosa (disorder) Inferred relationship Some
Congenital junctional epidermolysis bullosa Is a True Junctional epidermolysis bullosa (disorder) Inferred relationship Some
A form of junctional epidermolysis bullosa characterized by onset in childhood or young adulthood of blistering that first occurs around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, and knees. Lesions heal with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries. Is a True Junctional epidermolysis bullosa (disorder) Inferred relationship Some
Junctional epidermolysis bullosa non-Herlitz type (disorder) Is a True Junctional epidermolysis bullosa (disorder) Inferred relationship Some

This concept is not in any reference sets

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