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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


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 Some
X-linked retinal dysplasia (disorder) Is a X-linked hereditary disease false Inferred relationship Some
X-linked retinal dysplasia (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
X-linked retinal dysplasia (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 2
X-linked retinal dysplasia (disorder) Occurrence Congenital false Inferred relationship Some 2
X-linked retinal dysplasia (disorder) Finding site Retinal structure false Inferred relationship Some 2
X-linked retinal dysplasia (disorder) Associated morphology Dysplasia false Inferred relationship Some 3
X-linked retinal dysplasia (disorder) Occurrence Congenital false Inferred relationship Some 3
X-linked retinal dysplasia (disorder) Finding site Retinal structure false Inferred relationship Some 3
X-linked retinal dysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
X-linked retinal dysplasia (disorder) Occurrence Congenital true Inferred relationship Some 1
X-linked retinal dysplasia (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
X-linked retinal dysplasia (disorder) Finding site Retinal structure true Inferred relationship Some 1
X-linked retinal dysplasia (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
X-linked retinal dysplasia (disorder) Is a X-linked recessive hereditary disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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