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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
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
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
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. Is a Recessive dystrophic epidermolysis bullosa true Inferred relationship Some
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. Is a Generalized dystrophic epidermolysis bullosa true Inferred relationship Some
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. Finding site Connective tissue structure false Inferred relationship Some
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. Associated morphology Epidermolysis false Inferred relationship Some 3
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. Finding site Skin structure false Inferred relationship Some 3
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. Associated morphology anomalie du développement false Inferred relationship Some 4
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. Occurrence Congenital false Inferred relationship Some 4
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. Finding site Skin structure false Inferred relationship Some 4
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. Finding site Skin structure true Inferred relationship Some 1
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. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
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. Occurrence Congenital true Inferred relationship Some 1
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. Associated morphology Epidermolysis true Inferred relationship Some 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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