48528004: 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

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

\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
\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
\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
\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

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

\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
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa (disorder)\Dystrophic epidermolysis bullosa (disorder)\Recessive dystrophic epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Recessive dystrophic epidermolysis bullosa
\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
\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
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Dystrophic epidermolysis bullosa (disorder)\Recessive dystrophic epidermolysis bullosa
\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
\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
\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
\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
\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
\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
\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
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Epidermolysis bullosa (disorder)\Dystrophic epidermolysis bullosa (disorder)\Recessive dystrophic epidermolysis bullosa
\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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Recessive dystrophic epidermolysis bullosa	Is a	Epidermolysis bullosa (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Recessive dystrophic epidermolysis bullosa	Finding site	Connective tissue structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Recessive dystrophic epidermolysis bullosa	Associated morphology	Epidermolysis (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Recessive dystrophic epidermolysis bullosa	Associated morphology	Keratolysis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Recessive dystrophic epidermolysis bullosa	Associated morphology	Blister (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Recessive dystrophic epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Recessive dystrophic epidermolysis bullosa	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Recessive dystrophic epidermolysis bullosa	Finding site	Structure of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Recessive dystrophic epidermolysis bullosa	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Recessive dystrophic epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Recessive dystrophic epidermolysis bullosa	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Recessive dystrophic epidermolysis bullosa	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Recessive dystrophic epidermolysis bullosa	Is a	Dystrophic epidermolysis bullosa (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Recessive dystrophic epidermolysis bullosa	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Recessive dystrophic epidermolysis bullosa	Is a	Hereditary disorder of the integument (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Recessive dystrophic epidermolysis bullosa	Associated morphology	Epidermolysis (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Recessive dystrophic epidermolysis bullosa	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Recessive dystrophic epidermolysis bullosa	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Localised recessive dystrophic epidermolysis bullosa	Is a	True	Recessive dystrophic epidermolysis bullosa	Inferred relationship	Existential restriction modifier (core metadata concept)
Generalized recessive dystrophic epidermolysis bullosa mitis	Is a	True	Recessive dystrophic epidermolysis bullosa	Inferred relationship	Existential restriction modifier (core metadata concept)
épidermolyse bulleuse dystrophique évolutive autosomique récessive	Is a	False	Recessive dystrophic epidermolysis bullosa	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Is a	True	Recessive dystrophic epidermolysis bullosa	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe generalized recessive dystrophic epidermolysis bullosa (disorder)	Is a	True	Recessive dystrophic epidermolysis bullosa	Inferred relationship	Existential restriction modifier (core metadata concept)
Centripetalis recessive dystrophic epidermolysis bullosa	Is a	True	Recessive dystrophic epidermolysis bullosa	Inferred relationship	Existential restriction modifier (core metadata concept)
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder)	Is a	True	Recessive dystrophic epidermolysis bullosa	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
80859012	Recessive dystrophic epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
80860019	Dysplastic epidermolysis bullosa dystrophica	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
80861015	Polydysplastic epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
786106013	Recessive dystrophic epidermolysis bullosa (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
80859012	Recessive dystrophic epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
80859012	Recessive dystrophic epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
80860019	Dysplastic epidermolysis bullosa dystrophica	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
80860019	Dysplastic epidermolysis bullosa dystrophica	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
80861015	Polydysplastic epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
80861015	Polydysplastic epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
786106013	Recessive dystrophic epidermolysis bullosa (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
786106013	Recessive dystrophic epidermolysis bullosa (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4548631000241118	épidermolyse bulleuse dystrophique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4548631000241118	épidermolyse bulleuse dystrophique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module