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1197357008: Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome (disorder)


Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4695980014 Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome en Synonym Active Case insensitive SNOMED CT core
4695981013 Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4695982018 A rare genetic eye disease with characteristics of optic disc anomalies (bilateral colobomatous optic discs, retinal vessels arising from the peripheral optic disc) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Is a Bilateral congenital coloboma of optic discs true Inferred relationship Some
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Is a Inherited optic neuropathy true Inferred relationship Some
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Is a Atrophy of macula lutea true Inferred relationship Some
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Occurrence Congenital true Inferred relationship Some 2
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Finding site Structure of left optic disc true Inferred relationship Some 2
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 2
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Occurrence Congenital true Inferred relationship Some 3
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Finding site Structure of right optic disc true Inferred relationship Some 3
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 3
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Finding site Macula lutea structure true Inferred relationship Some 1
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Associated morphology Atrophy true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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