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95493003: Congenital retinoschisis (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
158173012 Congenital retinoschisis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
839658019 Congenital retinoschisis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1822351000005116 Kongenit retinoschisis da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital retinoschisis Is a Retinoschisis true Inferred relationship Some
Congenital retinoschisis Is a Congenital anomaly of retina false Inferred relationship Some
Congenital retinoschisis Finding site Retinal structure false Inferred relationship Some 1
Congenital retinoschisis Associated morphology kongenit manglende sammenvoksning false Inferred relationship Some 1
Congenital retinoschisis Associated morphology Degeneration false Inferred relationship Some 1
Congenital retinoschisis Occurrence Congenital false Inferred relationship Some
Congenital retinoschisis Finding site Structure of nervous system (body structure) false Inferred relationship Some
Congenital retinoschisis Associated morphology Separation false Inferred relationship Some 1
Congenital retinoschisis Finding site Retinal structure false Inferred relationship Some 2
Congenital retinoschisis Finding site Retinal structure false Inferred relationship Some 3
Congenital retinoschisis Finding site Retinal structure false Inferred relationship Some 3
Congenital retinoschisis Finding site Retinal structure false Inferred relationship Some 1
Congenital retinoschisis Finding site Retinal structure false Inferred relationship Some 1
Congenital retinoschisis Finding site Retinal structure false Inferred relationship Some 2
Congenital retinoschisis Finding site Retinal structure false Inferred relationship Some 2
Congenital retinoschisis Finding site Retinal structure false Inferred relationship Some 3
Congenital retinoschisis Is a Congenital malformation false Inferred relationship Some
Congenital retinoschisis Is a Congenital anomaly of retina true Inferred relationship Some
Congenital retinoschisis Occurrence Congenital false Inferred relationship Some 3
Congenital retinoschisis Finding site Retinal structure false Inferred relationship Some 1
Congenital retinoschisis Finding site Retinal structure true Inferred relationship Some 2
Congenital retinoschisis Is a Congenital disease false Inferred relationship Some
Congenital retinoschisis Finding site Retinal structure true Inferred relationship Some 1
Congenital retinoschisis Associated morphology Separation false Inferred relationship Some 1
Congenital retinoschisis Associated morphology Degeneration false Inferred relationship Some 1
Congenital retinoschisis Associated morphology Degeneration false Inferred relationship Some 2
Congenital retinoschisis Associated morphology Degenerative abnormality false Inferred relationship Some 2
Congenital retinoschisis Associated morphology Separation true Inferred relationship Some 2
Congenital retinoschisis Occurrence Congenital true Inferred relationship Some 2
Congenital retinoschisis Associated morphology Degenerative abnormality true Inferred relationship Some 1
Congenital retinoschisis Occurrence Congenital true Inferred relationship Some 1
Congenital retinoschisis Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital retinoschisis Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localised foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity and on occasion acute-angle glaucoma. Caused by homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. Is a False Congenital retinoschisis Inferred relationship Some

Reference Sets

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