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1172636006: Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4634910013 Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4634911012 Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4634912017 A rare genetic retinal disorder with characteristics of bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling and mild hypermetropic astigmatism may be associated. 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
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) est un(e) (attribut) maladie chronique true Inferred relationship Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) est un(e) (attribut) Hereditary retinal dystrophy true Inferred relationship Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) est un(e) (attribut) Disorder of right eye (disorder) true Inferred relationship Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) est un(e) (attribut) Disorder of left eye true Inferred relationship Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) est un(e) (attribut) Congenital coloboma of iris (disorder) true Inferred relationship Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 4
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) localisation d'une constatation (attribut) Structure of iris of right eye true Inferred relationship Some 1
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) localisation d'une constatation (attribut) Structure of iris of left eye true Inferred relationship Some 2
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) localisation d'une constatation (attribut) structure de la rétine true Inferred relationship Some 3
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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