1156849001: Autosomal recessive 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\Autosomal recessive epidermolysis bullosa simplex

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

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex
\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\Autosomal recessive epidermolysis bullosa simplex
\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\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
\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\Autosomal recessive epidermolysis bullosa simplex
\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\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
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\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
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive epidermolysis bullosa simplex
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\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
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex
\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\Autosomal recessive epidermolysis bullosa simplex
\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\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
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex
\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\Autosomal recessive epidermolysis bullosa simplex
\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\Autosomal recessive epidermolysis bullosa simplex
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4576324010 Autosomal recessive epidermolysis bullosa simplex en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4576325011 Autosomal recessive epidermolysis bullosa simplex (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5078801000052115 autosomalt recessiv epidermolysis bullosa simplex sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive epidermolysis bullosa simplex	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive epidermolysis bullosa simplex	Is a	Epidermolysis bullosa simplex	true	Inferred relationship	Some
Autosomal recessive epidermolysis bullosa simplex	Associated morphology	Epidermolysis	true	Inferred relationship	Some	1
Autosomal recessive epidermolysis bullosa simplex	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	true	Inferred relationship	Some	1
Autosomal recessive epidermolysis bullosa simplex	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Epidermolysis bullosa simplex due to BP230 deficiency (disorder)	Is a	True	Autosomal recessive epidermolysis bullosa simplex	Inferred relationship	Some
Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder)	Is a	True	Autosomal recessive epidermolysis bullosa simplex	Inferred relationship	Some
Epidermolysis bullosa simplex with muscular dystrophy (disorder)	Is a	True	Autosomal recessive epidermolysis bullosa simplex	Inferred relationship	Some
Keratin 14 related epidermolysis bullosa simplex (disorder)	Is a	True	Autosomal recessive epidermolysis bullosa simplex	Inferred relationship	Some
Epidermolysis bullosa simplex due to plakophilin deficiency (disorder)	Is a	True	Autosomal recessive epidermolysis bullosa simplex	Inferred relationship	Some
Epidermolysis bullosa simplex with pyloric atresia	Is a	True	Autosomal recessive epidermolysis bullosa simplex	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4576324010	Autosomal recessive epidermolysis bullosa simplex	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4576325011	Autosomal recessive epidermolysis bullosa simplex (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5078801000052115	autosomalt recessiv epidermolysis bullosa simplex	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)