723716009: Severe generalized 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\...

\Generalised dystrophic epidermolysis bullosa\Severe generalised recessive dystrophic epidermolysis bullosa

\Recessive dystrophic epidermolysis bullosa\Severe generalised recessive dystrophic epidermolysis bullosa

\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\...

\Generalised dystrophic epidermolysis bullosa\Severe generalised recessive dystrophic epidermolysis bullosa

\Recessive dystrophic epidermolysis bullosa\Severe generalised recessive dystrophic epidermolysis bullosa

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

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

3425664011 Severe generalized recessive dystrophic epidermolysis bullosa (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3425665012 Severe generalized recessive dystrophic epidermolysis bullosa en Synonym Active Case insensitive SNOMED CT core

3425666013 Severe generalised recessive dystrophic epidermolysis bullosa en Synonym Active Case insensitive SNOMED CT core

3425667016 Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis en Synonym Active Case insensitive SNOMED CT core

3425668014 Autosomal recessive dystrophic epidermolysis bullosa Hallopeau Siemens type en Synonym Active Initial character case insensitive SNOMED CT core

3425669018 The most severe subtype of dystrophic epidermolysis bullosa characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. Blisters develop at birth or during the neonatal period and affect all the body as well as the oral and gastrointestinal mucosa. Eye involvement is frequent and includes blepharitis and corneal blisters that can lead to loss of vision. Esophageal stricture is frequent and result in severe dysphagia. Nearly all patients develop at least one aggressive squamous cell carcinoma. The disease is caused by null mutations within the type VII collagen gene (COL7A1) that usually lead to a lack of functional collagen VII, the main constituent of anchoring fibrils that anchor the basement membrane to the dermis. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

3425670017 The most severe subtype of dystrophic epidermolysis bullosa characterised by generalised cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. Blisters develop at birth or during the neonatal period and affect all the body as well as the oral and gastrointestinal mucosa. Eye involvement is frequent and includes blepharitis and corneal blisters that can lead to loss of vision. Oesophageal stricture is frequent and result in severe dysphagia. Nearly all patients develop at least one aggressive squamous cell carcinoma. The disease is caused by null mutations within the type VII collagen gene (COL7A1) that usually lead to a lack of functional collagen VII, the main constituent of anchoring fibrils that anchor the basement membrane to the dermis. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe generalised recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	true	Inferred relationship	Some	1
Severe generalised recessive dystrophic epidermolysis bullosa	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Severe generalised recessive dystrophic epidermolysis bullosa	Occurrence	Congenital	true	Inferred relationship	Some	1
Severe generalised recessive dystrophic epidermolysis bullosa	Associated morphology	Epidermolysis	true	Inferred relationship	Some	1
Severe generalised recessive dystrophic epidermolysis bullosa	Is a	Recessive dystrophic epidermolysis bullosa	true	Inferred relationship	Some
Severe generalised recessive dystrophic epidermolysis bullosa	Is a	Generalised dystrophic epidermolysis bullosa	true	Inferred relationship	Some
Severe generalised recessive dystrophic epidermolysis bullosa	Finding site	Connective tissue structure	false	Inferred relationship	Some
Severe generalised recessive dystrophic epidermolysis bullosa	Associated morphology	Epidermolysis	false	Inferred relationship	Some	3
Severe generalised recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	3
Severe generalised recessive dystrophic epidermolysis bullosa	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Severe generalised recessive dystrophic epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Some	4
Severe generalised recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	4

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
3425664011	Severe generalized recessive dystrophic epidermolysis bullosa (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3425665012	Severe generalized recessive dystrophic epidermolysis bullosa	en	Synonym	Active	Case insensitive	SNOMED CT core
3425666013	Severe generalised recessive dystrophic epidermolysis bullosa	en	Synonym	Active	Case insensitive	SNOMED CT core
3425667016	Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis	en	Synonym	Active	Case insensitive	SNOMED CT core
3425668014	Autosomal recessive dystrophic epidermolysis bullosa Hallopeau Siemens type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3425669018	The most severe subtype of dystrophic epidermolysis bullosa characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. Blisters develop at birth or during the neonatal period and affect all the body as well as the oral and gastrointestinal mucosa. Eye involvement is frequent and includes blepharitis and corneal blisters that can lead to loss of vision. Esophageal stricture is frequent and result in severe dysphagia. Nearly all patients develop at least one aggressive squamous cell carcinoma. The disease is caused by null mutations within the type VII collagen gene (COL7A1) that usually lead to a lack of functional collagen VII, the main constituent of anchoring fibrils that anchor the basement membrane to the dermis. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core
3425670017	The most severe subtype of dystrophic epidermolysis bullosa characterised by generalised cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. Blisters develop at birth or during the neonatal period and affect all the body as well as the oral and gastrointestinal mucosa. Eye involvement is frequent and includes blepharitis and corneal blisters that can lead to loss of vision. Oesophageal stricture is frequent and result in severe dysphagia. Nearly all patients develop at least one aggressive squamous cell carcinoma. The disease is caused by null mutations within the type VII collagen gene (COL7A1) that usually lead to a lack of functional collagen VII, the main constituent of anchoring fibrils that anchor the basement membrane to the dermis. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core