403808006: Generalized recessive non-mutilating dystrophic 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\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 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\Disorder of integument\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\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\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 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 body system\Disorder of integument\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\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\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:

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

837571000052114 generaliserad recessiv icke-mutilerande dystrofisk epidermolysis bullosa sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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	kongenital anomali	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	utvecklingsabnormitet	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
837571000052114	generaliserad recessiv icke-mutilerande dystrofisk epidermolysis bullosa	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)