723163000: Basal 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\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)

\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)

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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)
\Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)
\Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)
\Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)
\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\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3334762019 Basal epidermolysis bullosa simplex (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3334763012 Basal epidermolysis bullosa simplex en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

947781000172119 epidermolyse bulleuse simple basale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Basal epidermolysis bullosa simplex (disorder)	Is a	Epidermolysis bullosa simplex	true	Inferred relationship	Some
Basal epidermolysis bullosa simplex (disorder)	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Some
Basal epidermolysis bullosa simplex (disorder)	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Basal epidermolysis bullosa simplex (disorder)	Finding site	Connective tissue structure	false	Inferred relationship	Some
Basal epidermolysis bullosa simplex (disorder)	Associated morphology	Epidermolysis	false	Inferred relationship	Some	4
Basal epidermolysis bullosa simplex (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Basal epidermolysis bullosa simplex (disorder)	Finding site	Stratum germinativum	false	Inferred relationship	Some	4
Basal epidermolysis bullosa simplex (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Some	5
Basal epidermolysis bullosa simplex (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Basal epidermolysis bullosa simplex (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	5
Basal epidermolysis bullosa simplex (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Basal epidermolysis bullosa simplex (disorder)	Finding site	Stratum germinativum	true	Inferred relationship	Some	1
Basal epidermolysis bullosa simplex (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Basal epidermolysis bullosa simplex (disorder)	Associated morphology	Epidermolysis	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.	Is a	True	Basal epidermolysis bullosa simplex (disorder)	Inferred relationship	Some
A rare, inherited, epidermolysis bullosa simplex characterized by neonatal onset of generalized or, less frequently, localized acral blistering. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles). Severe generalized blistering may cause perinatal death or persist during the entire life. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation.	Is a	True	Basal epidermolysis bullosa simplex (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3334762019	Basal epidermolysis bullosa simplex (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3334763012	Basal epidermolysis bullosa simplex	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
947781000172119	epidermolyse bulleuse simple basale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module