254188009: Generalized 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

\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa
\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
\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
\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

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

378382012 Generalized dystrophic epidermolysis bullosa en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

378383019 Generalised dystrophic epidermolysis bullosa en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

645044012 Generalized dystrophic epidermolysis bullosa (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5082601000241114 épidermolyse bulleuse dystrophique généralisée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Generalized dystrophic epidermolysis bullosa	Is a	Dystrophic epidermolysis bullosa	true	Inferred relationship	Some
Generalized dystrophic epidermolysis bullosa	Associated morphology	Blister	false	Inferred relationship	Some	1
Generalized dystrophic epidermolysis bullosa	Associated morphology	Epidermolysis	false	Inferred relationship	Some	2
Generalized dystrophic epidermolysis bullosa	Associated morphology	Keratolysis	false	Inferred relationship	Some	1
Generalized dystrophic epidermolysis bullosa	Finding site	Skin structure	true	Inferred relationship	Some	1
Generalized dystrophic epidermolysis bullosa	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some
Generalized dystrophic epidermolysis bullosa	Finding site	Connective tissue structure	false	Inferred relationship	Some
Generalized dystrophic epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Some
Generalized dystrophic epidermolysis bullosa	Finding site	Connective tissue	false	Inferred relationship	Some
Generalized dystrophic epidermolysis bullosa	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Generalized dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Generalized dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	1
Generalized dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Generalized dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Generalized dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	1
Generalized dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Generalized dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	1
Generalized dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Generalized dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	1
Generalized dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	1
Generalized dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Generalized dystrophic epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Some	3
Generalized dystrophic epidermolysis bullosa	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Generalized dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	3
Generalized dystrophic epidermolysis bullosa	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Generalized dystrophic epidermolysis bullosa	Associated morphology	Epidermolysis	true	Inferred relationship	Some	1
Generalized dystrophic epidermolysis bullosa	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Generalised recessive dystrophic epidermolysis bullosa mitis	Is a	True	Generalized dystrophic epidermolysis bullosa	Inferred relationship	Some
Transient neonatal bullous dermatosis	Is a	False	Generalized dystrophic epidermolysis bullosa	Inferred relationship	Some
Dominant dystrophic epidermolysis bullosa, albopapular type	Is a	True	Generalized dystrophic epidermolysis bullosa	Inferred relationship	Some
Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder)	Is a	True	Generalized dystrophic epidermolysis bullosa	Inferred relationship	Some
Dystrophic epidermolysis bullosa inverse type (disorder)	Is a	True	Generalized dystrophic epidermolysis bullosa	Inferred relationship	Some
Epidermolysis bullosa pruriginosa (disorder)	Is a	True	Generalized dystrophic epidermolysis bullosa	Inferred relationship	Some
Transient bullous dermolysis of newborn (disorder)	Is a	True	Generalized dystrophic epidermolysis bullosa	Inferred relationship	Some
Severe generalized recessive dystrophic epidermolysis bullosa (disorder)	Is a	True	Generalized dystrophic epidermolysis bullosa	Inferred relationship	Some
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder)	Is a	True	Generalized dystrophic epidermolysis bullosa	Inferred relationship	Some
Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder)	Is a	True	Generalized dystrophic epidermolysis bullosa	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378382012	Generalized dystrophic epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378383019	Generalised dystrophic epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645044012	Generalized dystrophic epidermolysis bullosa (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5082601000241114	épidermolyse bulleuse dystrophique généralisée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module