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723716009: Severe generalized recessive dystrophic epidermolysis bullosa (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
3425664011 Severe generalized recessive dystrophic epidermolysis bullosa (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425665012 Severe generalized recessive dystrophic epidermolysis bullosa en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425666013 Severe generalised recessive dystrophic epidermolysis bullosa en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425667016 Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425668014 Autosomal recessive dystrophic epidermolysis bullosa Hallopeau Siemens type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5403146011 A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403147019 A severe form of dystrophic epidermolysis bullosa (DEB) characterised by generalised cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425664011 Severe generalized recessive dystrophic epidermolysis bullosa (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425665012 Severe generalized recessive dystrophic epidermolysis bullosa en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425666013 Severe generalised recessive dystrophic epidermolysis bullosa en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425667016 Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425668014 Autosomal recessive dystrophic epidermolysis bullosa Hallopeau Siemens type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5403146011 A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403147019 A severe form of dystrophic epidermolysis bullosa (DEB) characterised by generalised cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3445861001000116 Epidermolysis bullosa, dystrophe, generalisierte schwere, autosomal-rezessive de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
879981000172117 epidermolyse bulleuse dystrophique récessive sévère généralisée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
950741000172114 EBDR sévère généralisée fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
879981000172117 epidermolyse bulleuse dystrophique récessive sévère généralisée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
950741000172114 EBDR sévère généralisée fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3445861001000116 Epidermolysis bullosa, dystrophe, generalisierte schwere, autosomal-rezessive de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Severe generalized recessive dystrophic epidermolysis bullosa (disorder) Is a Recessive dystrophic epidermolysis bullosa true Inferred relationship Existential restriction modifier (core metadata concept)
Severe generalized recessive dystrophic epidermolysis bullosa (disorder) Is a Generalized dystrophic epidermolysis bullosa true Inferred relationship Existential restriction modifier (core metadata concept)
Severe generalized recessive dystrophic epidermolysis bullosa (disorder) Finding site Connective tissue structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Severe generalized recessive dystrophic epidermolysis bullosa (disorder) Associated morphology Epidermolysis (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe generalized recessive dystrophic epidermolysis bullosa (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe generalized recessive dystrophic epidermolysis bullosa (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Severe generalized recessive dystrophic epidermolysis bullosa (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Severe generalized recessive dystrophic epidermolysis bullosa (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Severe generalized recessive dystrophic epidermolysis bullosa (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe generalized recessive dystrophic epidermolysis bullosa (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe generalized recessive dystrophic epidermolysis bullosa (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Severe generalized recessive dystrophic epidermolysis bullosa (disorder) Associated morphology Epidermolysis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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