1254890002: gelokaliseerde 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)\Localised non-Herlitz junctional epidermolysis bullosa

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

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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa non-Herlitz type (disorder)\Localised non-Herlitz 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\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa non-Herlitz type (disorder)\Localised non-Herlitz 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)\Junctional epidermolysis bullosa non-Herlitz type (disorder)\Localised non-Herlitz 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)\Junctional epidermolysis bullosa non-Herlitz type (disorder)\Localised non-Herlitz junctional epidermolysis bullosa
\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)\Localised non-Herlitz junctional epidermolysis bullosa
\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)\Localised non-Herlitz junctional epidermolysis bullosa

\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)\Localised non-Herlitz junctional epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa non-Herlitz type (disorder)\Localised non-Herlitz junctional epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Junctional epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa non-Herlitz type (disorder)\Localised non-Herlitz 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\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa non-Herlitz type (disorder)\Localised non-Herlitz junctional epidermolysis bullosa
\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)\Localised non-Herlitz junctional epidermolysis bullosa
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa non-Herlitz type (disorder)\Localised non-Herlitz junctional epidermolysis bullosa
\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)\Localised non-Herlitz junctional epidermolysis bullosa
\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)\Localised non-Herlitz 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\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa non-Herlitz type (disorder)\Localised non-Herlitz 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)\Junctional epidermolysis bullosa non-Herlitz type (disorder)\Localised non-Herlitz 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)\Junctional epidermolysis bullosa non-Herlitz type (disorder)\Localised non-Herlitz 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)\Junctional epidermolysis bullosa non-Herlitz type (disorder)\Localised non-Herlitz 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)\Junctional epidermolysis bullosa non-Herlitz type (disorder)\Localised non-Herlitz junctional epidermolysis bullosa
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa non-Herlitz type (disorder)\Localised non-Herlitz junctional epidermolysis bullosa
\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)\Localised non-Herlitz junctional epidermolysis bullosa

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Localised non-Herlitz junctional epidermolysis bullosa	Is a	Junctional epidermolysis bullosa non-Herlitz type (disorder)	true	Inferred relationship	Some
Localised non-Herlitz junctional epidermolysis bullosa	Occurrence	Congenital	true	Inferred relationship	Some	1
Localised non-Herlitz junctional epidermolysis bullosa	Finding site	Skin structure	true	Inferred relationship	Some	1
Localised non-Herlitz junctional epidermolysis bullosa	Associated morphology	Epidermolysis	true	Inferred relationship	Some	1
Localised non-Herlitz junctional epidermolysis bullosa	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
5143792017	Localised non-Herlitz junctional epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5143793010	Localized junctional epidermolysis bullosa non-Herlitz type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5143794016	Localized non-Herlitz junctional epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5147330012	Localised junctional epidermolysis bullosa non-Herlitz type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5147331011	Localized junctional epidermolysis bullosa non-Herlitz type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
14078331000146112	gelokaliseerde 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)
14078341000146116	JEB-nH loc	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14078351000146118	gelokaliseerde 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)
14078361000146115	gelokaliseerde 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)