2689001: dominante dystrofische epidermolysis bullosa met afwezigheid van huid (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\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin

\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin
\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\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin
\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\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin
\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\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin
\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\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin
\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\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin
\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\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin
\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\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin
\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\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin
\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\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin
\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\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin
\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\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin
\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\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa with absence of skin

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2008. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dominant dystrophic epidermolysis bullosa with absence of skin	Is a	Dominant dystrophic epidermolysis bullosa	true	Inferred relationship	Some
Dominant dystrophic epidermolysis bullosa with absence of skin	Associated morphology	Blister	false	Inferred relationship	Some	1
Dominant dystrophic epidermolysis bullosa with absence of skin	Associated morphology	Epidermolysis	true	Inferred relationship	Some	2
Dominant dystrophic epidermolysis bullosa with absence of skin	Associated morphology	Keratolysis	false	Inferred relationship	Some	1
Dominant dystrophic epidermolysis bullosa with absence of skin	Finding site	Skin structure	false	Inferred relationship	Some	1
Dominant dystrophic epidermolysis bullosa with absence of skin	Finding site	Connective tissue structure	false	Inferred relationship	Some
Dominant dystrophic epidermolysis bullosa with absence of skin	Finding site	Skin structure	false	Inferred relationship	Some	2
Dominant dystrophic epidermolysis bullosa with absence of skin	Associated morphology	Epidermolysis	false	Inferred relationship	Some	2
Dominant dystrophic epidermolysis bullosa with absence of skin	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some
Dominant dystrophic epidermolysis bullosa with absence of skin	Occurrence	Congenital	false	Inferred relationship	Some
Dominant dystrophic epidermolysis bullosa with absence of skin	Finding site	Connective tissue	false	Inferred relationship	Some
Dominant dystrophic epidermolysis bullosa with absence of skin	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Dominant dystrophic epidermolysis bullosa with absence of skin	Finding site	Skin structure	false	Inferred relationship	Some	2
Dominant dystrophic epidermolysis bullosa with absence of skin	Finding site	Skin structure	false	Inferred relationship	Some	1
Dominant dystrophic epidermolysis bullosa with absence of skin	Finding site	Skin structure	false	Inferred relationship	Some	2
Dominant dystrophic epidermolysis bullosa with absence of skin	Finding site	Skin structure	false	Inferred relationship	Some	2
Dominant dystrophic epidermolysis bullosa with absence of skin	Finding site	Skin structure	false	Inferred relationship	Some	1
Dominant dystrophic epidermolysis bullosa with absence of skin	Finding site	Skin structure	false	Inferred relationship	Some	2
Dominant dystrophic epidermolysis bullosa with absence of skin	Finding site	Skin structure	false	Inferred relationship	Some	1
Dominant dystrophic epidermolysis bullosa with absence of skin	Finding site	Skin structure	false	Inferred relationship	Some	2
Dominant dystrophic epidermolysis bullosa with absence of skin	Finding site	Skin structure	false	Inferred relationship	Some	1
Dominant dystrophic epidermolysis bullosa with absence of skin	Finding site	Skin structure	false	Inferred relationship	Some	1
Dominant dystrophic epidermolysis bullosa with absence of skin	Finding site	Skin structure	true	Inferred relationship	Some	2
Dominant dystrophic epidermolysis bullosa with absence of skin	Is a	Aplasia of skin	false	Inferred relationship	Some
Dominant dystrophic epidermolysis bullosa with absence of skin	Is a	Congenital malformation	false	Inferred relationship	Some
Dominant dystrophic epidermolysis bullosa with absence of skin	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	1
Dominant dystrophic epidermolysis bullosa with absence of skin	Finding site	Skin structure	true	Inferred relationship	Some	1
Dominant dystrophic epidermolysis bullosa with absence of skin	Finding site	Skin structure	false	Inferred relationship	Some	3
Dominant dystrophic epidermolysis bullosa with absence of skin	Occurrence	Congenital	false	Inferred relationship	Some	3
Dominant dystrophic epidermolysis bullosa with absence of skin	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Dominant dystrophic epidermolysis bullosa with absence of skin	Occurrence	Congenital	true	Inferred relationship	Some	2
Dominant dystrophic epidermolysis bullosa with absence of skin	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Dominant dystrophic epidermolysis bullosa with absence of skin	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Dominant dystrophic epidermolysis bullosa with absence of skin	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1
Dominant dystrophic epidermolysis bullosa with absence of skin	Occurrence	Congenital	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
5557014	Dominant dystrophic epidermolysis bullosa with absence of skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5558016	Epidermolysis bullosa dystrophica, Bart type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
757394011	Dominant dystrophic epidermolysis bullosa with absence of skin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6830321000146116	dominante dystrofische epidermolysis bullosa met afwezigheid van huid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6830331000146119	dominante dystrofische epidermolysis bullosa met afwezigheid van huid (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9106541000146113	dominante dystrofische epidermolysis bullosa type Bart	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)