403808006: gegeneraliseerde recessieve niet-mutilerende epidermolysis bullosa dystrophica (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\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)

\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic 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\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic 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\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic 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\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic 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\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic 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\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic 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\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic 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\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic 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\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic 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\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic 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\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic 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\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic 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\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)

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
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Is a	Generalized dystrophic epidermolysis bullosa	true	Inferred relationship	Some
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Associated morphology	Blister	false	Inferred relationship	Some	1
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Associated morphology	Keratolysis	false	Inferred relationship	Some	1
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Finding site	Connective tissue structure	false	Inferred relationship	Some
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Associated morphology	Epidermolysis	false	Inferred relationship	Some	2
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	3
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Associated morphology	Epidermolysis	true	Inferred relationship	Some	1
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1771734011	Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1773755018	Generalised recessive non-mutilating dystrophic epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1775041015	Generalized recessive non-mutilating dystrophic epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1787878012	Dystrophic epidermolysis bullosa generalisata mitis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6830801000146118	gegeneraliseerde recessieve niet-mutilerende dystrofische epidermolysis bullosa	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9106641000146112	gegeneraliseerde recessieve niet-mutilerende epidermolysis bullosa dystrophica	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9106651000146110	gegeneraliseerde recessieve niet-mutilerende epidermolysis bullosa dystrophica (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)