733638006: Acral dystrophic epidermolysis bullosa (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...

\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa

\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa

\General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa
\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\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa
\Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Acral dystrophic epidermolysis bullosa
\Disease\Degenerative disorder\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa
\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\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Localised dystrophic epidermolysis bullosa\Acral dystrophic epidermolysis bullosa

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3472919015 Acral dystrophic epidermolysis bullosa (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3472920014 Acral dystrophic epidermolysis bullosa en Synonym Active Case insensitive SNOMED CT core

3472921013 Acral DEB (dystrophic epidermolysis bullosa) en Synonym Active Initial character case insensitive SNOMED CT core

3472922018 A very rare subtype of dystrophic epidermolysis bullosa with characteristics of blistering confined primarily to the hands and feet. The disease usually manifests during infancy with trauma-induced blisters limited to extremities. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement. Caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to an alteration in function of collagen VII. This impairs its assembly into anchoring fibrils that anchor the basement membrane to the underlying dermis. Transmission is autosomal dominant (acral dominant dystrophic epidermolysis bullosa) or autosomal recessive (acral recessive dystrophic epidermolysis bullosa). en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acral dystrophic epidermolysis bullosa	Finding site	Skin structure	true	Inferred relationship	Some	1
Acral dystrophic epidermolysis bullosa	Occurrence	Congenital	true	Inferred relationship	Some	1
Acral dystrophic epidermolysis bullosa	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Acral dystrophic epidermolysis bullosa	Associated morphology	Epidermolysis	true	Inferred relationship	Some	1
Acral dystrophic epidermolysis bullosa	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Acral dystrophic epidermolysis bullosa	Is a	Localised dystrophic epidermolysis bullosa	true	Inferred relationship	Some
Acral dystrophic epidermolysis bullosa	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Acral dystrophic epidermolysis bullosa	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Acral dystrophic epidermolysis bullosa	Finding site	Connective tissue structure	false	Inferred relationship	Some
Acral dystrophic epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Some	4
Acral dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	4
Acral dystrophic epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Some	5
Acral dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	5
Acral dystrophic epidermolysis bullosa	Associated morphology	Epidermolysis	false	Inferred relationship	Some	4
Acral dystrophic epidermolysis bullosa	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5

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
3472919015	Acral dystrophic epidermolysis bullosa (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3472920014	Acral dystrophic epidermolysis bullosa	en	Synonym	Active	Case insensitive	SNOMED CT core
3472921013	Acral DEB (dystrophic epidermolysis bullosa)	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3472922018	A very rare subtype of dystrophic epidermolysis bullosa with characteristics of blistering confined primarily to the hands and feet. The disease usually manifests during infancy with trauma-induced blisters limited to extremities. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement. Caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to an alteration in function of collagen VII. This impairs its assembly into anchoring fibrils that anchor the basement membrane to the underlying dermis. Transmission is autosomal dominant (acral dominant dystrophic epidermolysis bullosa) or autosomal recessive (acral recessive dystrophic epidermolysis bullosa).	en	Definition	Active	Case sensitive	SNOMED CT core