724206005: Keratin 14 related 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\Keratin 14 related epidermolysis bullosa simplex (disorder)

\Basal epidermolysis bullosa simplex (disorder)\Keratin 14 related epidermolysis bullosa simplex (disorder)

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

\Autosomal recessive epidermolysis bullosa simplex\Keratin 14 related epidermolysis bullosa simplex (disorder)

\Basal epidermolysis bullosa simplex (disorder)\Keratin 14 related epidermolysis bullosa simplex (disorder)

\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\Keratin 14 related 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)\Keratin 14 related 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\Autosomal recessive epidermolysis bullosa simplex\Keratin 14 related 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)\Keratin 14 related 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\Autosomal recessive epidermolysis bullosa simplex\Keratin 14 related 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)\Keratin 14 related 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\Autosomal recessive epidermolysis bullosa simplex\Keratin 14 related 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)\Keratin 14 related epidermolysis bullosa simplex (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Keratin 14 related 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)\Keratin 14 related 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\Autosomal recessive epidermolysis bullosa simplex\Keratin 14 related 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)\Keratin 14 related 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\Autosomal recessive epidermolysis bullosa simplex\Keratin 14 related 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)\Keratin 14 related epidermolysis bullosa simplex (disorder)
\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\Keratin 14 related epidermolysis bullosa simplex (disorder)
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Keratin 14 related epidermolysis bullosa simplex (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Keratin 14 related 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)\Keratin 14 related epidermolysis bullosa simplex (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Keratin 14 related 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)\Keratin 14 related epidermolysis bullosa simplex (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Keratin 14 related 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)\Keratin 14 related epidermolysis bullosa simplex (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Keratin 14 related epidermolysis bullosa simplex (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Keratin 14 related epidermolysis bullosa simplex (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive epidermolysis bullosa simplex\Keratin 14 related epidermolysis bullosa simplex (disorder)
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Keratin 14 related epidermolysis bullosa simplex (disorder)
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Keratin 14 related epidermolysis bullosa simplex (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Keratin 14 related 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)\Keratin 14 related epidermolysis bullosa simplex (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Keratin 14 related 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)\Keratin 14 related 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\Autosomal recessive epidermolysis bullosa simplex\Keratin 14 related 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)\Keratin 14 related 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\Autosomal recessive epidermolysis bullosa simplex\Keratin 14 related 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)\Keratin 14 related epidermolysis bullosa simplex (disorder)
\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\Keratin 14 related epidermolysis bullosa simplex (disorder)
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Keratin 14 related epidermolysis bullosa simplex (disorder)
\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\Keratin 14 related epidermolysis bullosa simplex (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Keratin 14 related 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\Autosomal recessive epidermolysis bullosa simplex\Keratin 14 related 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)\Keratin 14 related 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\Autosomal recessive epidermolysis bullosa simplex\Keratin 14 related 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)\Keratin 14 related epidermolysis bullosa simplex (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Keratin 14 related epidermolysis bullosa simplex (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Basal epidermolysis bullosa simplex (disorder)\Keratin 14 related epidermolysis bullosa simplex (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Keratin 14 related 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)\Keratin 14 related epidermolysis bullosa simplex (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3432332013 Keratin 14 related epidermolysis bullosa simplex (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3432333015 KRT14 related epidermolysis bullosa simplex en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3432334014 Keratin 14 related epidermolysis bullosa simplex en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3432335010 EBS-AR KRT14 - epidermolysis bullosa simplex autosomal recessive keratin 14 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3432336011 A basal subtype of epidermolysis bullosa simplex characterized by generalized or, less frequently, localized acral blistering. 19 cases have been reported to date. Onset of the disease is usually at birth. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles) and rarely ichthyotic plaques. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation. Due to mutations in the KRT14 gene (17q12-q21), encoding keratin 14. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3432337019 A basal subtype of epidermolysis bullosa simplex characterised by generalised or, less frequently, localised acral blistering. 19 cases have been reported to date. Onset of the disease is usually at birth. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles) and rarely ichthyotic plaques. Extracutaneous involvement is common, including anaemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation. Due to mutations in the KRT14 gene (17q12-q21), encoding keratin 14. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3984031000052119 KRT14-relaterad epidermolysis bullosa simplex sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Keratin 14 related epidermolysis bullosa simplex (disorder)	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Keratin 14 related epidermolysis bullosa simplex (disorder)	Is a	Basal epidermolysis bullosa simplex (disorder)	true	Inferred relationship	Some
Keratin 14 related epidermolysis bullosa simplex (disorder)	Finding site	Connective tissue structure	false	Inferred relationship	Some
Keratin 14 related epidermolysis bullosa simplex (disorder)	Associated morphology	Epidermolysis	false	Inferred relationship	Some	4
Keratin 14 related epidermolysis bullosa simplex (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Keratin 14 related epidermolysis bullosa simplex (disorder)	Finding site	Stratum germinativum	false	Inferred relationship	Some	4
Keratin 14 related epidermolysis bullosa simplex (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	5
Keratin 14 related epidermolysis bullosa simplex (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Keratin 14 related epidermolysis bullosa simplex (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	5
Keratin 14 related epidermolysis bullosa simplex (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Keratin 14 related epidermolysis bullosa simplex (disorder)	Finding site	Stratum germinativum	true	Inferred relationship	Some	1
Keratin 14 related epidermolysis bullosa simplex (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Keratin 14 related epidermolysis bullosa simplex (disorder)	Associated morphology	Epidermolysis	true	Inferred relationship	Some	1
Keratin 14 related epidermolysis bullosa simplex (disorder)	Is a	Autosomal recessive epidermolysis bullosa simplex	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3432332013	Keratin 14 related epidermolysis bullosa simplex (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3432333015	KRT14 related epidermolysis bullosa simplex	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3432334014	Keratin 14 related epidermolysis bullosa simplex	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3432335010	EBS-AR KRT14 - epidermolysis bullosa simplex autosomal recessive keratin 14	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3432336011	A basal subtype of epidermolysis bullosa simplex characterized by generalized or, less frequently, localized acral blistering. 19 cases have been reported to date. Onset of the disease is usually at birth. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles) and rarely ichthyotic plaques. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation. Due to mutations in the KRT14 gene (17q12-q21), encoding keratin 14. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3432337019	A basal subtype of epidermolysis bullosa simplex characterised by generalised or, less frequently, localised acral blistering. 19 cases have been reported to date. Onset of the disease is usually at birth. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles) and rarely ichthyotic plaques. Extracutaneous involvement is common, including anaemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation. Due to mutations in the KRT14 gene (17q12-q21), encoding keratin 14. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3984031000052119	KRT14-relaterad epidermolysis bullosa simplex	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)