254183000: Lethal autosomal recessive 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 recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\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\Degenerative disorder\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\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\Epidermolysis bullosa\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 of skin\Degenerative skin disorder\Epidermolysis bullosa\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 of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive 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 recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\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 of skin\Degenerative skin disorder\Epidermolysis bullosa\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 of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal autosomal recessive epidermolysis bullosa simplex

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378373018 Lethal autosomal recessive epidermolysis bullosa simplex en Synonym Active Case insensitive SNOMED CT core

645038013 Lethal autosomal recessive epidermolysis bullosa simplex (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lethal autosomal recessive epidermolysis bullosa simplex	Associated morphology	Epidermolysis	true	Inferred relationship	Some	1
Lethal autosomal recessive epidermolysis bullosa simplex	Occurrence	Congenital	true	Inferred relationship	Some	1
Lethal autosomal recessive epidermolysis bullosa simplex	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Lethal autosomal recessive epidermolysis bullosa simplex	Is a	Autosomal recessive epidermolysis bullosa simplex	true	Inferred relationship	Some
Lethal autosomal recessive epidermolysis bullosa simplex	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	1
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	1
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	2
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	2
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	1
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	2
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	1
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	2
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	1
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	true	Inferred relationship	Some	1
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	2
Lethal autosomal recessive epidermolysis bullosa simplex	Associated morphology	Epidermolysis	false	Inferred relationship	Some	2
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	2
Lethal autosomal recessive epidermolysis bullosa simplex	Occurrence	Congenital	false	Inferred relationship	Some	3
Lethal autosomal recessive epidermolysis bullosa simplex	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	3
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Structure of musculoskeletal system	false	Inferred relationship	Some
Lethal autosomal recessive epidermolysis bullosa simplex	Associated morphology	Blister	false	Inferred relationship	Some	1
Lethal autosomal recessive epidermolysis bullosa simplex	Associated morphology	Keratolysis	false	Inferred relationship	Some	1
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Connective tissue structure	false	Inferred relationship	Some
Lethal autosomal recessive epidermolysis bullosa simplex	Occurrence	Congenital	false	Inferred relationship	Some
Lethal autosomal recessive epidermolysis bullosa simplex	Finding site	Connective tissue	false	Inferred relationship	Some
Lethal autosomal recessive epidermolysis bullosa simplex	Is a	Epidermolysis bullosa simplex	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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
378373018	Lethal autosomal recessive epidermolysis bullosa simplex	en	Synonym	Active	Case insensitive	SNOMED CT core
645038013	Lethal autosomal recessive epidermolysis bullosa simplex (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core