FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.4-SNAPSHOT | FHIR Version n/a User: [n/a]

294705005: Dominant epidermolysis bullosa simplex, Weber-Cockayne type (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...

\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Weber-Cockayne syndrome

\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal dominant epidermolysis bullosa simplex (disorder)\Weber-Cockayne syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Weber-Cockayne syndrome	Is a	Epidermolysis bullosa simplex	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Weber-Cockayne syndrome	Associated morphology	Epidermolysis (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Weber-Cockayne syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Weber-Cockayne syndrome	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Weber-Cockayne syndrome	Finding site	Connective tissue structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Weber-Cockayne syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Weber-Cockayne syndrome	Associated morphology	Keratolysis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Weber-Cockayne syndrome	Associated morphology	Blister (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Weber-Cockayne syndrome	Finding site	Structure of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Weber-Cockayne syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Weber-Cockayne syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Weber-Cockayne syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Weber-Cockayne syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Weber-Cockayne syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Weber-Cockayne syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Weber-Cockayne syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Weber-Cockayne syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Weber-Cockayne syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Weber-Cockayne syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Weber-Cockayne syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Weber-Cockayne syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Weber-Cockayne syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Weber-Cockayne syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Weber-Cockayne syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Weber-Cockayne syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Weber-Cockayne syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Weber-Cockayne syndrome	Associated morphology	Epidermolysis (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Weber-Cockayne syndrome	Is a	Autosomal dominant epidermolysis bullosa simplex (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
434998011	Weber-Cockayne syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
434999015	Epidermolysis bullosa simplex of the hands AND/OR feet	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
435000015	DEBS-WC	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
435001016	Dominant epidermolysis bullosa simplex, Weber-Cockayne type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
689735010	Dominant epidermolysis bullosa simplex, Weber-Cockayne type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
434998011	Weber-Cockayne syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
434999015	Epidermolysis bullosa simplex of the hands AND/OR feet	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
435000015	DEBS-WC	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
435001016	Dominant epidermolysis bullosa simplex, Weber-Cockayne type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
689735010	Dominant epidermolysis bullosa simplex, Weber-Cockayne type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3394581001000114	Epidermolysis bullosa simplex, lokalisierte	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5163021000241113	épidermolyse bulleuse simplex, type Weber-Cockaine	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5163021000241113	épidermolyse bulleuse simplex, type Weber-Cockaine	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3394581001000114	Epidermolysis bullosa simplex, lokalisierte	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module