717761005: Choroideremia with deafness and obesity syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Choroid finding\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Head finding (finding)\Finding of head region\Globe finding (finding)\Choroid finding\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome

\Body measurement finding\Weight finding\High body weight (finding)\Obese\Obesity\Choroideremia with deafness and obesity syndrome

\Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Choroideremia with deafness and obesity syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Ear and auditory finding\Ear finding (finding)\Disorder of ear\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Choroideremia with deafness and obesity syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome

\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Eye / vision finding\Globe finding (finding)\Choroid finding\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Eye / vision finding\Globe finding (finding)\Choroid finding\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome

\Functional finding\Hearing finding\Hearing disorder (disorder)\...

\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome

\Hearing loss\Hearing loss associated with syndrome\Choroideremia with deafness and obesity syndrome
\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Hearing loss\Sensorineural hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Hearing loss\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of sensory organ (disorder)\Disorder of ear\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Choroideremia with deafness and obesity syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Disease\Obesity\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Choroideremia with deafness and obesity syndrome
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Choroideremia with deafness and obesity syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Sensorineural hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy (disorder)\Hereditary choroidal dystrophy (disorder)\Choroideraemia\Choroideremia with deafness and obesity syndrome
\Disease\Disorder of head (disorder)\Disorder of ear\Conductive hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Choroideremia with deafness and obesity syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Choroideremia with deafness and obesity syndrome

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

5401584017 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

5401585016 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

3310365015 Choroideremia with deafness and obesity syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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 Only initial character 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

5401584017 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

5401585016 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

601201000274114 Ayazi-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3408491001000113 Mikrodeletionssyndrom Xq21 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5786091000241110 syndrome d'Ayazi fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5786101000241118 syndrome de choroïdérémie, obésité et surdité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5786121000241111 monosomie Xq21 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5786091000241110 syndrome d'Ayazi fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5786101000241118 syndrome de choroïdérémie, obésité et surdité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5786121000241111 monosomie Xq21 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

601201000274114 Ayazi-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3408491001000113 Mikrodeletionssyndrom Xq21 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Choroideremia with deafness and obesity syndrome	Is a	Hereditary retinal dystrophy (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome	Is a	Auditory system hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome	Is a	Obesity	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome	Has definitional manifestation	Obese	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome	Interprets	Hearing	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Choroideremia with deafness and obesity syndrome	Interprets	entité observable fonctionnelle	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Choroideremia with deafness and obesity syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Choroideremia with deafness and obesity syndrome	Finding site	Retinal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Choroideremia with deafness and obesity syndrome	Is a	Choroideraemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome	Is a	Mixed conductive AND sensorineural hearing loss	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome	Associated morphology	dégénérescence	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Choroideremia with deafness and obesity syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Choroideremia with deafness and obesity syndrome	Finding site	Choroidal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Choroideremia with deafness and obesity syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Choroideremia with deafness and obesity syndrome	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Choroideremia with deafness and obesity syndrome	Interprets	Measured body weight (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Choroideremia with deafness and obesity syndrome	Is a	Congenital sensorineural hearing loss (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Choroideremia with deafness and obesity syndrome	Is a	Anomaly of chromosome X	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Choroideremia with deafness and obesity syndrome	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Choroideremia with deafness and obesity syndrome	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Choroideremia with deafness and obesity syndrome	Finding site	Sex chromosome X (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Choroideremia with deafness and obesity syndrome	Interprets	Hearing	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Choroideremia with deafness and obesity syndrome	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Choroideremia with deafness and obesity syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Choroideremia with deafness and obesity syndrome	Finding site	Long arm of chromosome (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Choroideremia with deafness and obesity syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Choroideremia with deafness and obesity syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Choroideremia with deafness and obesity syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Choroideremia with deafness and obesity syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Choroideremia with deafness and obesity syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Choroideremia with deafness and obesity syndrome	Finding site	Ear structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Choroideremia with deafness and obesity syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome	Is a	Congenital mixed conductive and sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome	Is a	X-linked sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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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
5401584017	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
5401585016	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
3310365015	Choroideremia with deafness and obesity syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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
5401584017	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
5401585016	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
601201000274114	Ayazi-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3408491001000113	Mikrodeletionssyndrom Xq21	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5786091000241110	syndrome d'Ayazi	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5786101000241118	syndrome de choroïdérémie, obésité et surdité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5786121000241111	monosomie Xq21	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5786091000241110	syndrome d'Ayazi	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5786101000241118	syndrome de choroïdérémie, obésité et surdité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5786121000241111	monosomie Xq21	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
601201000274114	Ayazi-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3408491001000113	Mikrodeletionssyndrom Xq21	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module