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715318006: Ehlers-Danlos syndrome classic type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5400821014 A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400822019 A rare inherited connective tissue disorder characterised by skin hyperextensibility, widened atrophic scars, and generalised joint hypermobility. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302210017 Ehlers-Danlos syndrome classic type (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302211018 Ehlers-Danlos syndrome classic type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302212013 Ehlers-Danlos syndrome classical type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5255462018 Classical Ehlers-Danlos syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
876591000172116 syndrome d'Ehlers-Danlos classique fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5677221000241116 EDS (Ehlers-Danlos syndrome) classique fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3382951001000117 Ehlers-Danlos-Syndrom, klassischer Typ de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Is a Ehlers-Danlos syndrome (disorder) true Inferred relationship Some
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Associated morphology Congenital dysplasia false Inferred relationship Some 2
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Occurrence Congenital true Inferred relationship Some 2
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Finding site Bone structure true Inferred relationship Some 2
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Associated morphology Congenital dysplasia false Inferred relationship Some 3
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Occurrence Congenital true Inferred relationship Some 3
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Finding site Skin structure false Inferred relationship Some 2
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Finding site Bone structure false Inferred relationship Some 3
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Finding site Skin structure true Inferred relationship Some 1
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Occurrence Congenital true Inferred relationship Some 1
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Is a Connective tissue hereditary disorder false Inferred relationship Some
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Is a Hereditary disorder of the integument false Inferred relationship Some
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Associated morphology Dysplasia true Inferred relationship Some 1
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Associated morphology Dysplasia true Inferred relationship Some 2
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Finding site Connective tissue structure true Inferred relationship Some 3
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group
syndrome d'Ehlers-Danlos type 2 Is a False A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Inferred relationship Some
syndrome d'Ehlers-Danlos type 1 Is a False A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Inferred relationship Some
A rare inherited connective tissue disorder characterised by skin hyperextensibility, widened atrophic scars and generalised joint hypermobility. The disease is caused by heterozygous mutation in the collagen alpha-2(V) gene (COL5A2) on chromosome 2q31. Is a True A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Inferred relationship Some

Reference Sets

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

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