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719455002: dystrophie des cônes avec réponse scotopique supranormale (trouble)


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

Descriptions:

Id Description Lang Type Status Case? Module
3316424013 Cone dystrophy with supernormal rod response (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316425014 Cone dystrophy with supernormal rod response en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316426010 Cone dystrophy with supernormal rod electroretinogram en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754241000241112 dystrophie des cônes avec réponse scotopique supranormale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
982071000172114 dystrophie des cônes avec réponse scotopique supranormale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
994821000172114 dystrophie des cônes avec réponse scotopique supranormale à l'ERG fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3316427018 Cone dystrophy with supernormal rod response is an inherited retinopathy, with an onset in the first or second decade of life. The disease has characteristics of 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 the disease 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. 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
Cone dystrophy with supernormal rod response (disorder) localisation d'une constatation (attribut) Cone of retina true Inferred relationship Some 1
Cone dystrophy with supernormal rod response (disorder) localisation d'une constatation (attribut) Rod of retina true Inferred relationship Some 2
Cone dystrophy with supernormal rod response (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Cone dystrophy with supernormal rod response (disorder) est un(e) (attribut) Cone dystrophy true Inferred relationship Some
Cone dystrophy with supernormal rod response (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 1
Cone dystrophy with supernormal rod response (disorder) localisation d'une constatation (attribut) structure de la rétine false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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