111389006: Dominant dystrophic epidermolysis bullosa (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...

\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa

\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa

\General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa
\Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa
\Disease\Degenerative disorder\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localized dystrophic epidermolysis bullosa\Dominant dystrophic epidermolysis bullosa

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

178629011 Dominant dystrophic epidermolysis bullosa en Synonym Active Entire term case insensitive SNOMED CT core module

187771013 Epidermolysis bullosa dystrophica dominans en Synonym Active Entire term case insensitive SNOMED CT core module

187772018 Hyperplastic epidermolysis bullosa en Synonym Active Entire term case insensitive SNOMED CT core module

361831010 Epidermolysis bullosa, Cockayne-Touraine type en Synonym Active Only initial character case insensitive SNOMED CT core module

361833013 Hyperplastic dystrophic epidermolysis bullosa en Synonym Active Entire term case insensitive SNOMED CT core module

630993018 Dominant dystrophic epidermolysis bullosa (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

2646293011 Cockayne Touraine epidermolysis bullosa en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dominant dystrophic epidermolysis bullosa	Is a	Localized dystrophic epidermolysis bullosa	true	Inferred relationship	Existential restriction modifier
Dominant dystrophic epidermolysis bullosa	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier
Dominant dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Dominant dystrophic epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Dominant dystrophic epidermolysis bullosa	Finding site	Connective tissue structure	false	Inferred relationship	Existential restriction modifier
Dominant dystrophic epidermolysis bullosa	Finding site	Structure of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Dominant dystrophic epidermolysis bullosa	Associated morphology	Epidermolysis	false	Inferred relationship	Existential restriction modifier	2
Dominant dystrophic epidermolysis bullosa	Associated morphology	Blister	false	Inferred relationship	Existential restriction modifier	1
Dominant dystrophic epidermolysis bullosa	Associated morphology	Epidermolysis	false	Inferred relationship	Existential restriction modifier	2
Dominant dystrophic epidermolysis bullosa	Associated morphology	Keratolysis	false	Inferred relationship	Existential restriction modifier	1
Dominant dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Dominant dystrophic epidermolysis bullosa	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Dominant dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Dominant dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Dominant dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Dominant dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Dominant dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Dominant dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Dominant dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Dominant dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Dominant dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Dominant dystrophic epidermolysis bullosa	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	1
Dominant dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Dominant dystrophic epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Dominant dystrophic epidermolysis bullosa	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Dominant dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Dominant dystrophic epidermolysis bullosa	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Dominant dystrophic epidermolysis bullosa	Associated morphology	Epidermolysis	true	Inferred relationship	Existential restriction modifier	1
Dominant dystrophic epidermolysis bullosa	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dominant dystrophic epidermolysis bullosa with absence of skin	Is a	True	Dominant dystrophic epidermolysis bullosa	Inferred relationship	Existential restriction modifier
Dominant dystrophic epidermolysis bullosa, albopapular type	Is a	True	Dominant dystrophic epidermolysis bullosa	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
178629011	Dominant dystrophic epidermolysis bullosa	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
187771013	Epidermolysis bullosa dystrophica dominans	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
187772018	Hyperplastic epidermolysis bullosa	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
361831010	Epidermolysis bullosa, Cockayne-Touraine type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
361833013	Hyperplastic dystrophic epidermolysis bullosa	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
630993018	Dominant dystrophic epidermolysis bullosa (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
2646293011	Cockayne Touraine epidermolysis bullosa	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module