723716009: Severe generalized 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\...

\Generalized dystrophic epidermolysis bullosa\Severe generalized recessive dystrophic epidermolysis bullosa

\Recessive dystrophic epidermolysis bullosa\Severe generalized recessive dystrophic epidermolysis bullosa

\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\...

\Generalized dystrophic epidermolysis bullosa\Severe generalized recessive dystrophic epidermolysis bullosa

\Recessive dystrophic epidermolysis bullosa\Severe generalized recessive dystrophic epidermolysis bullosa

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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Severe generalized recessive dystrophic epidermolysis bullosa
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Severe generalized 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\Generalized dystrophic epidermolysis bullosa\Severe generalized 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\Severe generalized 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\Generalized dystrophic epidermolysis bullosa\Severe generalized 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\Severe generalized recessive 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\Severe generalized 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\Severe generalized recessive dystrophic epidermolysis bullosa
\Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Severe generalized recessive dystrophic epidermolysis bullosa
\Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Severe generalized recessive dystrophic epidermolysis bullosa
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Severe generalized 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\Severe generalized recessive 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\Severe generalized 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\Severe generalized recessive dystrophic epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Severe generalized recessive dystrophic epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Severe generalized recessive dystrophic epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Recessive dystrophic epidermolysis bullosa\Severe generalized recessive dystrophic epidermolysis bullosa
\Disease\Degenerative disorder\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Severe generalized recessive dystrophic epidermolysis bullosa
\Disease\Degenerative disorder\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Severe generalized recessive 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\Severe generalized 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\Severe generalized recessive 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\Severe generalized 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\Severe generalized 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\Generalized dystrophic epidermolysis bullosa\Severe generalized 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\Severe generalized 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\Generalized dystrophic epidermolysis bullosa\Severe generalized 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\Severe generalized 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\Generalized dystrophic epidermolysis bullosa\Severe generalized 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\Severe generalized recessive dystrophic epidermolysis bullosa
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Severe generalized 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\Severe generalized 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\Generalized dystrophic epidermolysis bullosa\Severe generalized 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\Severe generalized 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\Generalized dystrophic epidermolysis bullosa\Severe generalized 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\Severe generalized recessive dystrophic epidermolysis bullosa
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Generalized dystrophic epidermolysis bullosa\Severe generalized recessive dystrophic epidermolysis bullosa
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Severe generalized recessive 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\Severe generalized 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\Severe generalized recessive dystrophic epidermolysis bullosa

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3425664011 Severe generalized recessive dystrophic epidermolysis bullosa (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3425665012 Severe generalized recessive dystrophic epidermolysis bullosa en Synonym Active Entire term case insensitive SNOMED CT core module

3425666013 Severe generalised recessive dystrophic epidermolysis bullosa en Synonym Active Entire term case insensitive SNOMED CT core module

3425667016 Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis en Synonym Active Entire term case insensitive SNOMED CT core module

3425668014 Autosomal recessive dystrophic epidermolysis bullosa Hallopeau Siemens type en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe generalized recessive dystrophic epidermolysis bullosa	Is a	Recessive dystrophic epidermolysis bullosa	true	Inferred relationship	Existential restriction modifier
Severe generalized recessive dystrophic epidermolysis bullosa	Is a	Generalized dystrophic epidermolysis bullosa	true	Inferred relationship	Existential restriction modifier
Severe generalized recessive dystrophic epidermolysis bullosa	Finding site	Connective tissue structure	false	Inferred relationship	Existential restriction modifier
Severe generalized recessive dystrophic epidermolysis bullosa	Associated morphology	Epidermolysis	false	Inferred relationship	Existential restriction modifier	3
Severe generalized recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Severe generalized recessive dystrophic epidermolysis bullosa	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Severe generalized recessive dystrophic epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Severe generalized recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	4
Severe generalized recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	1
Severe generalized recessive dystrophic epidermolysis bullosa	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Severe generalized recessive dystrophic epidermolysis bullosa	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Severe generalized recessive dystrophic epidermolysis bullosa	Associated morphology	Epidermolysis	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
3425664011	Severe generalized recessive dystrophic epidermolysis bullosa (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3425665012	Severe generalized recessive dystrophic epidermolysis bullosa	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3425666013	Severe generalised recessive dystrophic epidermolysis bullosa	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3425667016	Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3425668014	Autosomal recessive dystrophic epidermolysis bullosa Hallopeau Siemens type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module