254176007: Progressive recessive 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 (disorder)\Dystrophic epidermolysis bullosa (disorder)\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa (disorder)

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

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Dystrophic epidermolysis bullosa (disorder)\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa (disorder)\Dystrophic epidermolysis bullosa (disorder)\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Dystrophic epidermolysis bullosa (disorder)\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Dystrophic epidermolysis bullosa (disorder)\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa (disorder)
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Dystrophic epidermolysis bullosa (disorder)\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Dystrophic epidermolysis bullosa (disorder)\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Dystrophic epidermolysis bullosa (disorder)\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Dystrophic epidermolysis bullosa (disorder)\Recessive dystrophic epidermolysis bullosa\Progressive recessive 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 (disorder)\Dystrophic epidermolysis bullosa (disorder)\Recessive dystrophic epidermolysis bullosa\Progressive recessive 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 (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Dystrophic epidermolysis bullosa (disorder)\Recessive dystrophic epidermolysis bullosa\Progressive recessive 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 (disorder)\Dystrophic epidermolysis bullosa (disorder)\Recessive dystrophic epidermolysis bullosa\Progressive recessive 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 (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Dystrophic epidermolysis bullosa (disorder)\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa (disorder)
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Epidermolysis bullosa (disorder)\Dystrophic epidermolysis bullosa (disorder)\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Dystrophic epidermolysis bullosa (disorder)\Recessive dystrophic epidermolysis bullosa\Progressive recessive dystrophic epidermolysis bullosa (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Is a	Epidermolysis bullosa (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Finding site	Connective tissue structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Associated morphology	Blister (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Associated morphology	Epidermolysis (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Associated morphology	Keratolysis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Finding site	Structure of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Is a	Recessive dystrophic epidermolysis bullosa	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Associated morphology	Epidermolysis (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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 (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2836338015	Progressive recessive dystrophic epidermolysis bullosa (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2837219019	EBR 3	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2837220013	Goldscheider disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2840892016	Progressive recessive dystrophic epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2841702010	Epidermolysis bullosa dystrophica neurotrophica	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378361018	Goldscheider's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
645030018	Goldscheider's disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
645030018	Goldscheider's disease (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2836338015	Progressive recessive dystrophic epidermolysis bullosa (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2836338015	Progressive recessive dystrophic epidermolysis bullosa (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2837219019	EBR 3	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2837220013	Goldscheider disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2840892016	Progressive recessive dystrophic epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2840892016	Progressive recessive dystrophic epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2841702010	Epidermolysis bullosa dystrophica neurotrophica	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2841702010	Epidermolysis bullosa dystrophica neurotrophica	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core