254176007: Progressive recessive 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\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa

\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa

\General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Progressive recessive 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\Recessive dystrophic epidermolysis bullosa\Progressive recessive 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\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Progressive recessive 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\Recessive dystrophic epidermolysis bullosa\Progressive recessive 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\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa
\Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa
\Disease\Degenerative disorder\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Progressive recessive 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\Recessive dystrophic epidermolysis bullosa\Progressive recessive 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\Recessive dystrophic epidermolysis bullosa\Progressive recessive 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\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Progressive recessive 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\Recessive dystrophic epidermolysis bullosa\Progressive recessive 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\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Progressive recessive 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

378361018 Goldscheider's disease en Synonym Active Entire term case sensitive SNOMED CT core module

2836338015 Progressive recessive dystrophic epidermolysis bullosa (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

2837219019 EBR 3 en Synonym Active Entire term case sensitive SNOMED CT core module

2837220013 Goldscheider disease en Synonym Active Entire term case sensitive SNOMED CT core module

2840892016 Progressive recessive dystrophic epidermolysis bullosa en Synonym Active Entire term case insensitive SNOMED CT core module

2841702010 Epidermolysis bullosa dystrophica neurotrophica en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Progressive recessive dystrophic epidermolysis bullosa	Is a	Epidermolysis bullosa	false	Inferred relationship	Existential restriction modifier
Progressive recessive dystrophic epidermolysis bullosa	Finding site	Connective tissue structure	false	Inferred relationship	Existential restriction modifier
Progressive recessive dystrophic epidermolysis bullosa	Associated morphology	Blister	false	Inferred relationship	Existential restriction modifier	1
Progressive recessive dystrophic epidermolysis bullosa	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier
Progressive recessive dystrophic epidermolysis bullosa	Associated morphology	Epidermolysis	false	Inferred relationship	Existential restriction modifier	2
Progressive recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	1
Progressive recessive dystrophic epidermolysis bullosa	Associated morphology	Keratolysis	false	Inferred relationship	Existential restriction modifier	1
Progressive recessive dystrophic epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Progressive recessive dystrophic epidermolysis bullosa	Finding site	Structure of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Progressive recessive dystrophic epidermolysis bullosa	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Progressive recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Progressive recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Progressive recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Progressive recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Progressive recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Progressive recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Progressive recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Progressive recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Progressive recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Progressive recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Progressive recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Progressive recessive dystrophic epidermolysis bullosa	Is a	Recessive dystrophic epidermolysis bullosa	true	Inferred relationship	Existential restriction modifier
Progressive recessive dystrophic epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Progressive recessive dystrophic epidermolysis bullosa	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Progressive recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Progressive recessive dystrophic epidermolysis bullosa	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Progressive recessive dystrophic epidermolysis bullosa	Associated morphology	Epidermolysis	true	Inferred relationship	Existential restriction modifier	1
Progressive recessive dystrophic epidermolysis bullosa	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	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
378361018	Goldscheider's disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
2836338015	Progressive recessive dystrophic epidermolysis bullosa (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
2837219019	EBR 3	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
2837220013	Goldscheider disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
2840892016	Progressive recessive dystrophic epidermolysis bullosa	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2841702010	Epidermolysis bullosa dystrophica neurotrophica	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module