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723503006: Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3424860014 Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424861013 Retinal degeneration, nanophthalmos, glaucoma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424862018 Mackay Shek Carr syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424863011 Syndrome with characteristics of progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive. 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
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) morphologie associée (attribut) Pigmentary degeneration true Inferred relationship Some 1
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) localisation d'une constatation (attribut) structure de la rétine true Inferred relationship Some 1
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) est un(e) (attribut) Congenital anomaly of retina (disorder) true Inferred relationship Some
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) est un(e) (attribut) dégénérescence de la rétine true Inferred relationship Some
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) est un(e) (attribut) Congenital glaucoma (disorder) true Inferred relationship Some
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) est un(e) (attribut) Nanophthalmia (disorder) true Inferred relationship Some
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) morphologie associée (attribut) Congenital smallness true Inferred relationship Some 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) localisation d'une constatation (attribut) Entire eye true Inferred relationship Some 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) morphologie associée (attribut) Pigmentary degeneration false Inferred relationship Some 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) localisation d'une constatation (attribut) structure de la rétine false Inferred relationship Some 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) morphologie associée (attribut) Congenital smallness false Inferred relationship Some 3
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) localisation d'une constatation (attribut) Entire eye false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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