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312917007: Cone dystrophy (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
456725016 Cone dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
709642015 Cone dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5210901000241112 dystrophie des cônes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
604891000274116 Zapfendystrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


7 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cone dystrophy Is a Hereditary retinal dystrophy true Inferred relationship Some
Cone dystrophy Finding site Retinal structure false Inferred relationship Some
Cone dystrophy Associated morphology Dystrophy true Inferred relationship Some 1
Cone dystrophy Finding site Retinal structure false Inferred relationship Some 1
Cone dystrophy Finding site Cone of retina true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Progressive cone dystrophy (without rod involvement) Is a True Cone dystrophy Inferred relationship Some
Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation. Is a True Cone dystrophy Inferred relationship Some
Retinohepatoendocrinologic syndrome (disorder) Is a True Cone dystrophy Inferred relationship Some
Achromatopsia Is a True Cone dystrophy Inferred relationship Some
Blue cone monochromatism (disorder) Is a True Cone dystrophy Inferred relationship Some

This concept is not in any reference sets

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