254183000: Lethal autosomal recessive epidermolysis bullosa simplex (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)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex

\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\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)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\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)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\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)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\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)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\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)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\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)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\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)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\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)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\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)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\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)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex

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
Lethal autosomal recessive epidermolysis bullosa simplex	Is a	Epidermolysis bullosa simplex	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal autosomal recessive epidermolysis bullosa simplex	Associated morphology	Epidermolysis (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Structure of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal autosomal recessive epidermolysis bullosa simplex	Associated morphology	Blister (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal autosomal recessive epidermolysis bullosa simplex	Associated morphology	Keratolysis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Connective tissue structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal autosomal recessive epidermolysis bullosa simplex	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal autosomal recessive epidermolysis bullosa simplex	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lethal autosomal recessive epidermolysis bullosa simplex	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Lethal autosomal recessive epidermolysis bullosa simplex	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Lethal autosomal recessive epidermolysis bullosa simplex	Associated morphology	Epidermolysis (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal autosomal recessive epidermolysis bullosa simplex	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal autosomal recessive epidermolysis bullosa simplex	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal autosomal recessive epidermolysis bullosa simplex	Is a	Autosomal recessive epidermolysis bullosa simplex	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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
378373018	Lethal autosomal recessive epidermolysis bullosa simplex	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645038013	Lethal autosomal recessive epidermolysis bullosa simplex (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378373018	Lethal autosomal recessive epidermolysis bullosa simplex	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378373018	Lethal autosomal recessive epidermolysis bullosa simplex	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645038013	Lethal autosomal recessive epidermolysis bullosa simplex (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
645038013	Lethal autosomal recessive epidermolysis bullosa simplex (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6342621000241110	épidermolyse bulleuse simple autosomique récessive létale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6342631000241112	EBS (épidermolyse bulleuse simple) autosomique récessive létale	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6342621000241110	épidermolyse bulleuse simple autosomique récessive létale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6342631000241112	EBS (épidermolyse bulleuse simple) autosomique récessive létale	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module