398170002: Autosomal dominant epidermolysis bullosa simplex (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...

\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex

\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex

\General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex
\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\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex
\Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant epidermolysis bullosa simplex
\Disease\Degenerative disorder\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex
\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\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex

Status: current, Defined. Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1766089015 Autosomal dominant epidermolysis bullosa simplex (disorder) en Fully specified name Active Case insensitive SNOMED CT core

1777726013 Autosomal dominant epidermolysis bullosa simplex en Synonym Active Case insensitive SNOMED CT core

1786149016 EBS 1 en Synonym Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant epidermolysis bullosa simplex	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal dominant epidermolysis bullosa simplex	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal dominant epidermolysis bullosa simplex	Is a	Epidermolysis bullosa simplex	true	Inferred relationship	Some
Autosomal dominant epidermolysis bullosa simplex	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant epidermolysis bullosa simplex	Associated morphology	Epidermolysis	true	Inferred relationship	Some	1
Autosomal dominant epidermolysis bullosa simplex	Finding site	Connective tissue structure	false	Inferred relationship	Some
Autosomal dominant epidermolysis bullosa simplex	Associated morphology	Keratolysis	false	Inferred relationship	Some	1
Autosomal dominant epidermolysis bullosa simplex	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Autosomal dominant epidermolysis bullosa simplex	Associated morphology	Blister	false	Inferred relationship	Some	1
Autosomal dominant epidermolysis bullosa simplex	Occurrence	Congenital	false	Inferred relationship	Some
Autosomal dominant epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	2
Autosomal dominant epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	1
Autosomal dominant epidermolysis bullosa simplex	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Autosomal dominant epidermolysis bullosa simplex	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Autosomal dominant epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	1
Autosomal dominant epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	2
Autosomal dominant epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	1
Autosomal dominant epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	2
Autosomal dominant epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	1
Autosomal dominant epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	2
Autosomal dominant epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	1
Autosomal dominant epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	2
Autosomal dominant epidermolysis bullosa simplex	Finding site	Skin structure	true	Inferred relationship	Some	1
Autosomal dominant epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	2
Autosomal dominant epidermolysis bullosa simplex	Occurrence	Congenital	false	Inferred relationship	Some	3
Autosomal dominant epidermolysis bullosa simplex	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Autosomal dominant epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Weber-Cockayne syndrome	Is a	True	Autosomal dominant epidermolysis bullosa simplex	Inferred relationship	Some
Intermediate epidermolysis bullosa simplex with cardiomyopathy	Is a	True	Autosomal dominant epidermolysis bullosa simplex	Inferred relationship	Some
Epidermolysis bullosa simplex, Ogna type	Is a	True	Autosomal dominant epidermolysis bullosa simplex	Inferred relationship	Some
Epidermolysis bullosa simplex with circinate migratory erythema	Is a	True	Autosomal dominant epidermolysis bullosa simplex	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1766089015	Autosomal dominant epidermolysis bullosa simplex (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
1777726013	Autosomal dominant epidermolysis bullosa simplex	en	Synonym	Active	Case insensitive	SNOMED CT core
1786149016	EBS 1	en	Synonym	Active	Case sensitive	SNOMED CT core