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715240000: X-linked retinal dysplasia (disorder)


Status: current, 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
3301966011 X-linked retinal dysplasia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3301967019 X-linked retinal dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400811018 A rare genetic eye disease characterized by abnormal proliferation of retinal tissue resulting in the formation of retinal folds, thereby causing gliosis and, clinically, variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400812013 A rare genetic eye disease characterised by abnormal proliferation of retinal tissue resulting in the formation of retinal folds, thereby causing gliosis and, clinically, variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3301966011 X-linked retinal dysplasia (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3301967019 X-linked retinal dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400811018 A rare genetic eye disease characterized by abnormal proliferation of retinal tissue resulting in the formation of retinal folds, thereby causing gliosis and, clinically, variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400812013 A rare genetic eye disease characterised by abnormal proliferation of retinal tissue resulting in the formation of retinal folds, thereby causing gliosis and, clinically, variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
600901000274112 X-chromosomale Retinadysplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3420131001000114 Retinadysplasie, X-chromosomale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
932411000172116 dysplasie rétinienne liée à l'X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
932411000172116 dysplasie rétinienne liée à l'X fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
600901000274112 X-chromosomale Retinadysplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3420131001000114 Retinadysplasie, X-chromosomale 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
X-linked retinal dysplasia (disorder) Is a Retinal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked retinal dysplasia (disorder) Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked retinal dysplasia (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked retinal dysplasia (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked retinal dysplasia (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked retinal dysplasia (disorder) Finding site Retinal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked retinal dysplasia (disorder) Associated morphology Dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked retinal dysplasia (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked retinal dysplasia (disorder) Finding site Retinal structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked retinal dysplasia (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked retinal dysplasia (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked retinal dysplasia (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked retinal dysplasia (disorder) Finding site Retinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked retinal dysplasia (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked retinal dysplasia (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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