719432000: Late-onset 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)\Late-onset junctional epidermolysis bullosa (disorder)

\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Late-onset junctional epidermolysis bullosa (disorder)

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3316324014 Late-onset junctional epidermolysis bullosa (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316325010 Late-onset junctional epidermolysis bullosa en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5402110012 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402111011 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Late-onset junctional epidermolysis bullosa (disorder)	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Late-onset junctional epidermolysis bullosa (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Late-onset junctional epidermolysis bullosa (disorder)	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Late-onset junctional epidermolysis bullosa (disorder)	Is a	Junctional epidermolysis bullosa (disorder)	true	Inferred relationship	Some
Late-onset junctional epidermolysis bullosa (disorder)	Finding site	Connective tissue structure	false	Inferred relationship	Some
Late-onset junctional epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	3
Late-onset junctional epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	4
Late-onset junctional epidermolysis bullosa (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Late-onset junctional epidermolysis bullosa (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Late-onset junctional epidermolysis bullosa (disorder)	Associated morphology	Epidermolysis	false	Inferred relationship	Some	4
Late-onset junctional epidermolysis bullosa (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Late-onset junctional epidermolysis bullosa (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Late-onset junctional epidermolysis bullosa (disorder)	Associated morphology	Epidermolysis	true	Inferred relationship	Some	1
Late-onset junctional epidermolysis bullosa (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3316324014	Late-onset junctional epidermolysis bullosa (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316325010	Late-onset junctional epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402110012	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402111011	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core