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725407006: Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (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
3442281010 Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3442282015 Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3442283013 RDEB-O - recessive dystrophic epidermolysis bullosa-generalized other en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3442284019 RDEB-O - recessive dystrophic epidermolysis bullosa-generalised other en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403458016 A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403459012 A rare dystrophic epidermolysis bullosa (DEB) characterised by generalised cutaneous and mucosal blistering that is not associated with severe deformities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3442281010 Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3442282015 Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3442283013 RDEB-O - recessive dystrophic epidermolysis bullosa-generalized other en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3442284019 RDEB-O - recessive dystrophic epidermolysis bullosa-generalised other en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3442285018 A subtype of dystrophic epidermolysis bullosa characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.The disease manifests at birth or during the neonatal period with generalized blistering. Aplasia cutis congenita can also be observed at birth. The disease is caused by mutations within the type VII collagen gene (COL7A1) that lead to an alteration of function or a reduction in the amounts of collagen VII. This impairs collagen VII assembly into anchoring fibrils which anchor the basement membrane to the underlying dermis. This in turn causes reduced skin resistance to minor trauma. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3442286017 A subtype of dystrophic epidermolysis bullosa characterised by generalised cutaneous and mucosal blistering that is not associated with severe deformities.The disease manifests at birth or during the neonatal period with generalised blistering. Aplasia cutis congenita can also be observed at birth. The disease is caused by mutations within the type VII collagen gene (COL7A1) that lead to an alteration of function or a reduction in the amounts of collagen VII. This impairs collagen VII assembly into anchoring fibrils which anchor the basement membrane to the underlying dermis. This in turn causes reduced skin resistance to minor trauma. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403458016 A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403459012 A rare dystrophic epidermolysis bullosa (DEB) characterised by generalised cutaneous and mucosal blistering that is not associated with severe deformities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447511001000114 Epidermolysis bullosa, dystrophe, generalisierte, autosomal-rezessive, intermediäre Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447511001000114 Epidermolysis bullosa, dystrophe, generalisierte, autosomal-rezessive, intermediäre Form 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
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) Is a Recessive dystrophic epidermolysis bullosa true Inferred relationship Existential restriction modifier (core metadata concept)
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) Is a Generalized dystrophic epidermolysis bullosa true Inferred relationship Existential restriction modifier (core metadata concept)
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) Finding site Connective tissue structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) Associated morphology Epidermolysis (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) Associated morphology Epidermolysis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) 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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