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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
5327291000052110 syndrom med familjär progressiv retinal dystrofi, kolobom i regnbågshinna och medfödd katarakt sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) Is a Chronic disease true Inferred relationship Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) Is a Hereditary retinal dystrophy true Inferred relationship Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) Is a Disorder of right eye (disorder) true Inferred relationship Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) Is a Disorder of left eye true Inferred relationship Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) Is a Congenital coloboma of iris true Inferred relationship Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 4
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) Finding site Structure of iris of right eye true Inferred relationship Some 1
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) Associated morphology 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) Occurrence Congenital true Inferred relationship Some 2
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) Finding site Structure of iris of left eye true Inferred relationship Some 2
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) Associated morphology 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) Finding site Retinal structure true Inferred relationship Some 3
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) Associated morphology Dystrophy 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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