399971009: 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 (disorder)\Junctional epidermolysis bullosa

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

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\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 (disorder)\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 (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\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 (disorder)\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 (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Junctional epidermolysis bullosa
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\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 (disorder)\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 (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\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 (disorder)\Junctional epidermolysis bullosa
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Junctional epidermolysis bullosa	Is a	Epidermolysis bullosa (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Junctional epidermolysis bullosa	Associated morphology	Blister (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Junctional epidermolysis bullosa	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Junctional epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Junctional epidermolysis bullosa	Finding site	Connective tissue structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Junctional epidermolysis bullosa	Associated morphology	Epidermolysis (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Junctional epidermolysis bullosa	Associated morphology	Keratolysis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Junctional epidermolysis bullosa	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Junctional epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Junctional epidermolysis bullosa	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Junctional epidermolysis bullosa	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Junctional epidermolysis bullosa	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Junctional epidermolysis bullosa	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Localised junctional epidermolysis bullosa	Is a	True	Junctional epidermolysis bullosa	Inferred relationship	Existential restriction modifier (core metadata concept)
Generalised junctional epidermolysis bullosa	Is a	True	Junctional epidermolysis bullosa	Inferred relationship	Existential restriction modifier (core metadata concept)
Adult junctional epidermolysis bullosa	Is a	False	Junctional epidermolysis bullosa	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital junctional epidermolysis bullosa	Is a	True	Junctional epidermolysis bullosa	Inferred relationship	Existential restriction modifier (core metadata concept)
A form of junctional epidermolysis bullosa characterised 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	Inferred relationship	Existential restriction modifier (core metadata concept)
Junctional epidermolysis bullosa non-Herlitz type (disorder)	Is a	True	Junctional epidermolysis bullosa	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start

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
1767891015	Junctional epidermolysis bullosa (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
3383731001000119	Epidermolysis bullosa, junktionale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
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
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