725419003: Centripetalis recessive 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\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive dystrophic epidermolysis bullosa

\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive dystrophic epidermolysis bullosa

\General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive dystrophic epidermolysis bullosa
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive 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\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive 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\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive dystrophic epidermolysis bullosa

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive 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\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive 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\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive dystrophic epidermolysis bullosa
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive dystrophic epidermolysis bullosa
\Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive dystrophic epidermolysis bullosa
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive dystrophic epidermolysis bullosa

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive dystrophic epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive dystrophic epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive dystrophic epidermolysis bullosa
\Disease\Degenerative disorder\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive dystrophic epidermolysis bullosa
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive dystrophic epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive 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\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive 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\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive 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\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive dystrophic epidermolysis bullosa
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive 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\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive 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\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive dystrophic epidermolysis bullosa
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive dystrophic epidermolysis bullosa
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa\Centripetalis recessive dystrophic epidermolysis bullosa

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

Descriptions:

Id Description Lang Type Status Case? Module

3442495011 Centripetalis recessive dystrophic epidermolysis bullosa (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3442496012 Centripetalis recessive dystrophic epidermolysis bullosa en Synonym Active Case insensitive SNOMED CT core
3442497015 Centripetal recessive dystrophic epidermolysis bullosa en Synonym Active Case insensitive SNOMED CT core
3442498013 RDEB-Ce - recessive dystrophic epidermolysis bullosa centripetalis en Synonym Active Case sensitive SNOMED CT core
3442499017 An extremely rare subtype of dystrophic epidermolysis bullosa with characteristics of blistering, which begins acrally and then progressively, spreads toward the trunk. Less than ten cases have been reported to date. Onset is usually at birth or during infancy. The centripetal progression of blister formation is slow and occurs over decades. Healing of blisters is associated with milia formation, atrophic scarring and nail dystrophy. Mucosal involvement is usually absent. The disease is caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to an alteration in function or to a reduction in the amounts of collagen VII. This impairs its assembly into anchoring fibrils that anchor the basement membrane to the underlying dermis. The disease follows an autosomal recessive pattern of inheritance. en Definition Inactive Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Centripetalis recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	true	Inferred relationship	Some	1
Centripetalis recessive dystrophic epidermolysis bullosa	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Centripetalis recessive dystrophic epidermolysis bullosa	Occurrence	Congenital	true	Inferred relationship	Some	1
Centripetalis recessive dystrophic epidermolysis bullosa	Associated morphology	Epidermolysis	true	Inferred relationship	Some	1
Centripetalis recessive dystrophic epidermolysis bullosa	Is a	Recessive dystrophic epidermolysis bullosa	true	Inferred relationship	Some
Centripetalis recessive dystrophic epidermolysis bullosa	Finding site	Connective tissue structure	false	Inferred relationship	Some
Centripetalis recessive dystrophic epidermolysis bullosa	Associated morphology	Epidermolysis	false	Inferred relationship	Some	4
Centripetalis recessive dystrophic epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Some	4
Centripetalis recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	4
Centripetalis recessive dystrophic epidermolysis bullosa	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Centripetalis recessive dystrophic epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Some	5
Centripetalis recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	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
3442495011	Centripetalis recessive dystrophic epidermolysis bullosa (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3442496012	Centripetalis recessive dystrophic epidermolysis bullosa	en	Synonym	Active	Case insensitive	SNOMED CT core
3442497015	Centripetal recessive dystrophic epidermolysis bullosa	en	Synonym	Active	Case insensitive	SNOMED CT core
3442498013	RDEB-Ce - recessive dystrophic epidermolysis bullosa centripetalis	en	Synonym	Active	Case sensitive	SNOMED CT core
3442499017	An extremely rare subtype of dystrophic epidermolysis bullosa with characteristics of blistering, which begins acrally and then progressively, spreads toward the trunk. Less than ten cases have been reported to date. Onset is usually at birth or during infancy. The centripetal progression of blister formation is slow and occurs over decades. Healing of blisters is associated with milia formation, atrophic scarring and nail dystrophy. Mucosal involvement is usually absent. The disease is caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to an alteration in function or to a reduction in the amounts of collagen VII. This impairs its assembly into anchoring fibrils that anchor the basement membrane to the underlying dermis. The disease follows an autosomal recessive pattern of inheritance.	en	Definition	Inactive	Case sensitive	SNOMED CT core