67144006: 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

\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex

\General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\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
\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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\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
\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
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex
\Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex
\Disease\Degenerative disorder\Degenerative skin disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\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
\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
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\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
\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
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

111534011 Epidermolysis bullosa simplex en Synonym Active Entire term case insensitive SNOMED CT core module

806836018 Epidermolysis bullosa simplex (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Epidermolysis bullosa simplex with hypodontia	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier
Epidermolysis bullosa simplex herpetiformis	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier
Epidermolysis bullosa simplex with mottled pigmentation	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier
Epidermolysis simplex superficialis	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier
Epidermolysis bullosa simplex with neuromuscular disease	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier
Lethal autosomal recessive epidermolysis bullosa simplex	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier
Dominant epidermolysis bullosa simplex, Weber-Cockayne type	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier
Epidermolysis bullosa simplex of the hands AND/OR feet	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier
Autosomal dominant epidermolysis bullosa simplex	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier
Generalized epidermolysis bullosa simplex	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier
Generalized epidermolysis bullosa simplex	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier
Autosomal dominant epidermolysis bullosa simplex	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier
Epidermolysis bullosa simplex due to plakophilin deficiency	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier
Epidermolysis bullosa simplex co-occurrent with pyloric atresia	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier
Basal epidermolysis bullosa simplex	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier
Suprabasal epidermolysis bullosa simplex	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier
Epidermolysis bullosa simplex due to exophilin 5 deficiency	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier
Epidermolysis bullosa simplex due to BP230 deficiency	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier
Autosomal recessive epidermolysis bullosa simplex	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
111534011	Epidermolysis bullosa simplex	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
806836018	Epidermolysis bullosa simplex (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module