717761005: Choroideremia with deafness and obesity syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\Choroideremia with deafness and obesity syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Ear 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 (disorder)
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Globe finding\Choroid finding\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Finding of head region\Globe finding\Choroid finding\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Finding of head and neck region\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 (disorder)
• \Finding of head and neck region\Ear, nose and throat finding\Ear 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 (disorder)
• \Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat 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 (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Choroideremia with deafness and obesity syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Choroideremia with deafness and obesity syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Choroideremia with deafness and obesity syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing 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 (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing 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 (disorder)
• \Ear and auditory finding (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 (disorder)
• \Ear and auditory finding (finding)\Ear 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 (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Choroideremia with deafness and obesity syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Choroideremia with deafness and obesity syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing 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 (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing 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 (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Eye / vision finding\Globe finding\Choroid finding\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Eye / vision finding\Globe finding\Choroid finding\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Functional finding\Hearing finding (finding)\Hearing disorder\...
• \Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome (disorder)
• \Hearing loss\Hearing loss associated with syndrome\Choroideremia with deafness and obesity syndrome (disorder)
• \Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome (disorder)
• \Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Choroideremia with deafness and obesity syndrome (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 (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 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked sensorineural hearing loss\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Obesity (disorder)\Choroideremia with deafness and obesity syndrome (disorder)
• \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 (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing 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 (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing 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 (disorder)
• \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 (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Ear, nose and throat 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 (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration (disorder)\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideremia\Choroideremia with deafness and obesity syndrome (disorder)
• \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 (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Choroideremia with deafness and obesity syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\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

Expanded Value Set

This concept is not in any reference sets

Back to Start