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717761005: Choroideremia with deafness and obesity syndrome (disorder)


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
3310365015 Choroideremia with deafness and obesity syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3310366019 Choroideremia with deafness and obesity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3310370010 Choroideraemia with deafness and obesity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3310384017 Ayazi syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3850132014 Xq21 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3310372019 An X-linked retinal dystrophy, characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3310377013 An X-linked retinal dystrophy, characterised by choroideraemia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideraemia carrier state. 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
Choroideremia with deafness and obesity syndrome (disorder) est un(e) (attribut) Congenital sensorineural hearing loss (disorder) false Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Choroideremia with deafness and obesity syndrome (disorder) est un(e) (attribut) Anomaly of chromosome X true Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) morphologie associée (attribut) Deletion of long arm false Inferred relationship Some 5
Choroideremia with deafness and obesity syndrome (disorder) localisation d'une constatation (attribut) Sex chromosome X (cell structure) false Inferred relationship Some 5
Choroideremia with deafness and obesity syndrome (disorder) a pour interprétation (attribut) au-dessus de l'étendue de référence true Inferred relationship Some 3
Choroideremia with deafness and obesity syndrome (disorder) localisation d'une constatation (attribut) Sex chromosome X (cell structure) true Inferred relationship Some 6
Choroideremia with deafness and obesity syndrome (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 5
Choroideremia with deafness and obesity syndrome (disorder) a pour interprétation (attribut) altéré true Inferred relationship Some 5
Choroideremia with deafness and obesity syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Choroideremia with deafness and obesity syndrome (disorder) localisation d'une constatation (attribut) Long arm of chromosome (cell structure) true Inferred relationship Some 2
Choroideremia with deafness and obesity syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Choroideremia with deafness and obesity syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 6
Choroideremia with deafness and obesity syndrome (disorder) morphologie associée (attribut) Partial monosomy (morphologic abnormality) true Inferred relationship Some 6
Choroideremia with deafness and obesity syndrome (disorder) morphologie associée (attribut) Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Choroideremia with deafness and obesity syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Choroideremia with deafness and obesity syndrome (disorder) localisation d'une constatation (attribut) oreille true Inferred relationship Some 4
Choroideremia with deafness and obesity syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) est un(e) (attribut) Congenital mixed conductive and sensorineural hearing loss true Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) est un(e) (attribut) X-linked sensorineural hearing loss (disorder) true Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) est un(e) (attribut) Hereditary retinal dystrophy false Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) est un(e) (attribut) Congenital hearing disorder false Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) est un(e) (attribut) Hearing loss associated with syndrome true Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder false Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) est un(e) (attribut) Obesity (disorder) true Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) localisation d'une constatation (attribut) oreille false Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) est défini par la manifestation de (attribut) Obese (finding) false Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) interprète (attribut) Hearing, function (observable entity) false Inferred relationship Some 4
Choroideremia with deafness and obesity syndrome (disorder) interprète (attribut) entité observable fonctionnelle false Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) false Inferred relationship Some 5
Choroideremia with deafness and obesity syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Choroideremia with deafness and obesity syndrome (disorder) localisation d'une constatation (attribut) structure de la rétine false Inferred relationship Some 5
Choroideremia with deafness and obesity syndrome (disorder) est un(e) (attribut) Choroideremia true Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) est un(e) (attribut) Mixed conductive AND sensorineural hearing loss false Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Choroideremia with deafness and obesity syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 1
Choroideremia with deafness and obesity syndrome (disorder) localisation d'une constatation (attribut) structure de la choroïde true Inferred relationship Some 1
Choroideremia with deafness and obesity syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Choroideremia with deafness and obesity syndrome (disorder) localisation d'une constatation (attribut) oreille false Inferred relationship Some 2
Choroideremia with deafness and obesity syndrome (disorder) interprète (attribut) mesure du poids corporel 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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