254191009: Localized junctional epidermolysis bullosa (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...

\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa

\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Localised junctional epidermolysis bullosa	Is a	Junctional epidermolysis bullosa	false	Inferred relationship	Some
Localised junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	1
Localised junctional epidermolysis bullosa	Finding site	Skin structure	true	Inferred relationship	Some	1
Localised junctional epidermolysis bullosa	Finding site	Connective tissue	false	Inferred relationship	Some
Localised junctional epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Some
Localised junctional epidermolysis bullosa	Associated morphology	Epidermolysis	false	Inferred relationship	Some	2
Localised junctional epidermolysis bullosa	Associated morphology	Epidermolysis	false	Inferred relationship	Some	8
Localised junctional epidermolysis bullosa	Finding site	Connective tissue structure	false	Inferred relationship	Some
Localised junctional epidermolysis bullosa	Associated morphology	Keratolysis	false	Inferred relationship	Some	1
Localised junctional epidermolysis bullosa	Associated morphology	A fluid-filled, raised, often translucent lesion, greater than 1 cm in diameter	false	Inferred relationship	Some	1
Localised junctional epidermolysis bullosa	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some
Localised junctional epidermolysis bullosa	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Localised junctional epidermolysis bullosa	Is a	Junctional epidermolysis bullosa (disorder)	true	Inferred relationship	Some
Localised junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Localised junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	1
Localised junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Localised junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Localised junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	1
Localised junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Localised junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	1
Localised junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Localised junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	1
Localised junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	1
Localised junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Localised junctional epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Some	3
Localised junctional epidermolysis bullosa	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Localised junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	3
Localised junctional epidermolysis bullosa	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Localised junctional epidermolysis bullosa	Associated morphology	Epidermolysis	true	Inferred relationship	Some	1
Localised junctional epidermolysis bullosa	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Inverse junctional epidermolysis bullosa	Is a	True	Localised junctional epidermolysis bullosa	Inferred relationship	Some
Progressive junctional epidermolysis bullosa (neurotrophic)	Is a	True	Localised junctional epidermolysis bullosa	Inferred relationship	Some
A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992.	Is a	True	Localised junctional epidermolysis bullosa	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378387018	Localised junctional epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378388011	Localized junctional epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645047017	Localized junctional epidermolysis bullosa (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5082621000241116	épidermolyse bulleuse jonctionnelle localisée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3448721001000111	Epidermolysis bullosa, junktionale lokalisierte	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module