724225008: epidermolysis bullosa junctionalis van type non-Herlitz (aandoening)

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)\Junctional epidermolysis bullosa non-Herlitz type (disorder)

\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa non-Herlitz type (disorder)

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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa non-Herlitz type (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa non-Herlitz type (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa non-Herlitz type (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa non-Herlitz type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa non-Herlitz type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Junctional epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa non-Herlitz type (disorder)
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa non-Herlitz type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa non-Herlitz type (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa non-Herlitz type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa non-Herlitz type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa non-Herlitz type (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Junctional epidermolysis bullosa non-Herlitz type (disorder)	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Junctional epidermolysis bullosa non-Herlitz type (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Junctional epidermolysis bullosa non-Herlitz type (disorder)	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Junctional epidermolysis bullosa non-Herlitz type (disorder)	Is a	Junctional epidermolysis bullosa (disorder)	true	Inferred relationship	Some
Junctional epidermolysis bullosa non-Herlitz type (disorder)	Finding site	Connective tissue structure	false	Inferred relationship	Some
Junctional epidermolysis bullosa non-Herlitz type (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	3
Junctional epidermolysis bullosa non-Herlitz type (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	4
Junctional epidermolysis bullosa non-Herlitz type (disorder)	Associated morphology	Epidermolysis	false	Inferred relationship	Some	3
Junctional epidermolysis bullosa non-Herlitz type (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	4
Junctional epidermolysis bullosa non-Herlitz type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Junctional epidermolysis bullosa non-Herlitz type (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
Junctional epidermolysis bullosa non-Herlitz type (disorder)	Associated morphology	Epidermolysis	true	Inferred relationship	Some	1
Junctional epidermolysis bullosa non-Herlitz type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Junctional epidermolysis bullosa non-Herlitz type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Junctional epidermolysis bullosa non-Herlitz type (disorder)	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Junctional epidermolysis bullosa mitis (disorder)	Is a	True	Junctional epidermolysis bullosa non-Herlitz type (disorder)	Inferred relationship	Some
Localised non-Herlitz junctional epidermolysis bullosa	Is a	True	Junctional epidermolysis bullosa non-Herlitz type (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3432831012	Junctional epidermolysis bullosa non-Herlitz type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3432832017	Junctional epidermolysis bullosa non-Herlitz type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6876751000146113	epidermolysis bullosa junctionalis van type non-Herlitz (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6876761000146111	epidermolysis bullosa junctionalis van type non-Herlitz	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14094481000146118	junctionele epidermolysis bullosa van niet-Herlitz-type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)