717761005: Choroideremia with deafness and obesity syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

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

\Functional finding\Hearing finding\Hearing disorder\...

\Congenital hearing disorder\Congenital sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideraemia with deafness and obesity syndrome

\Hearing loss\Hearing loss associated with syndrome\Choroideraemia with deafness and obesity syndrome
\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideraemia with deafness and obesity syndrome
\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Choroideraemia with deafness and obesity syndrome
\Hearing loss\Sensorineural hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideraemia with deafness and obesity syndrome
\Hearing loss\Conductive hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideraemia with deafness and obesity syndrome

\General finding of observation of patient\Body measurement finding\Weight finding\High body weight\Obese\Obesity\Choroideraemia with deafness and obesity syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary choroidal dystrophy\Choroideraemia\Choroideraemia with deafness and obesity syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Choroideraemia with deafness and obesity syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Choroideraemia with deafness and obesity syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Choroideraemia\Choroideraemia with deafness and obesity syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked sensorineural hearing loss\Choroideraemia with deafness and obesity syndrome
\Disease\Obesity\Choroideraemia with deafness and obesity syndrome
\Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Choroideraemia with deafness and obesity syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Choroideraemia\Choroideraemia with deafness and obesity syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary choroidal dystrophy\Choroideraemia\Choroideraemia with deafness and obesity syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Choroideraemia with deafness and obesity syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\X-linked sensorineural hearing loss\Choroideraemia with deafness and obesity syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideraemia with deafness and obesity syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Choroideraemia with deafness and obesity syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideraemia with deafness and obesity syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\X-linked sensorineural hearing loss\Choroideraemia with deafness and obesity syndrome
\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\Choroideraemia with deafness and obesity syndrome
\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\Choroideraemia 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\Choroideraemia with deafness and obesity syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Choroideraemia\Choroideraemia with deafness and obesity syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Choroideraemia\Choroideraemia with deafness and obesity syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideraemia\Choroideraemia with deafness and obesity syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Choroideraemia\Choroideraemia with deafness and obesity syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideraemia\Choroideraemia with deafness and obesity syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary choroidal dystrophy\Choroideraemia\Choroideraemia with deafness and obesity syndrome
\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\Choroideraemia with deafness and obesity syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Choroideraemia\Choroideraemia with deafness and obesity syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Choroideraemia\Choroideraemia with deafness and obesity syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideraemia\Choroideraemia with deafness and obesity syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of choroid of eye\Choroidal degeneration\Hereditary choroidal dystrophy\Choroideraemia\Choroideraemia with deafness and obesity syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of uveal tract\Disorder of choroid of eye\Choroidal dystrophy\Hereditary choroidal dystrophy\Choroideraemia\Choroideraemia with deafness and obesity syndrome
\Disease\Disorder of head\Disorder of ear\Conductive hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideraemia with deafness and obesity syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Choroideraemia with deafness and obesity syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Choroideraemia with deafness and obesity syndrome
\Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Choroideraemia with deafness and obesity syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Choroideraemia with deafness and obesity syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Choroideraemia with deafness and obesity syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3310366019 Choroideremia with deafness and obesity syndrome en Synonym Active Case insensitive SNOMED CT core

3310370010 Choroideraemia with deafness and obesity syndrome en Synonym Active Case insensitive SNOMED CT core

3310384017 Ayazi syndrome en Synonym Active Case sensitive SNOMED CT core

3850132014 Xq21 microdeletion syndrome en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Choroideraemia with deafness and obesity syndrome	Is a	Congenital sensorineural hearing loss	false	Inferred relationship	Some
Choroideraemia with deafness and obesity syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Choroideraemia with deafness and obesity syndrome	Is a	Anomaly of chromosome X	true	Inferred relationship	Some
Choroideraemia with deafness and obesity syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	5
Choroideraemia with deafness and obesity syndrome	Finding site	Sex chromosome X	false	Inferred relationship	Some	5
Choroideraemia with deafness and obesity syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	3
Choroideraemia with deafness and obesity syndrome	Finding site	Sex chromosome X	true	Inferred relationship	Some	6
Choroideraemia with deafness and obesity syndrome	Interprets	Hearing	true	Inferred relationship	Some	5
Choroideraemia with deafness and obesity syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Choroideraemia with deafness and obesity syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Choroideraemia with deafness and obesity syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
Choroideraemia with deafness and obesity syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Choroideraemia with deafness and obesity syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Choroideraemia with deafness and obesity syndrome	Occurrence	Congenital	true	Inferred relationship	Some	6
Choroideraemia with deafness and obesity syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Some	6
Choroideraemia with deafness and obesity syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Some	2
Choroideraemia with deafness and obesity syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	6
Choroideraemia with deafness and obesity syndrome	Finding site	Ear structure	true	Inferred relationship	Some	4
Choroideraemia with deafness and obesity syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Choroideraemia with deafness and obesity syndrome	Is a	Congenital mixed conductive and sensorineural hearing loss	true	Inferred relationship	Some
Choroideraemia with deafness and obesity syndrome	Is a	X-linked sensorineural hearing loss	true	Inferred relationship	Some
Choroideraemia with deafness and obesity syndrome	Is a	Hereditary retinal dystrophy	false	Inferred relationship	Some
Choroideraemia with deafness and obesity syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Choroideraemia with deafness and obesity syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Choroideraemia with deafness and obesity syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Choroideraemia with deafness and obesity syndrome	Is a	Auditory system hereditary disorder	false	Inferred relationship	Some
Choroideraemia with deafness and obesity syndrome	Is a	Obesity	true	Inferred relationship	Some
Choroideraemia with deafness and obesity syndrome	Finding site	Ear structure	false	Inferred relationship	Some
Choroideraemia with deafness and obesity syndrome	Has definitional manifestation	Obese	false	Inferred relationship	Some
Choroideraemia with deafness and obesity syndrome	Interprets	Hearing	false	Inferred relationship	Some	4
Choroideraemia with deafness and obesity syndrome	Interprets	Functional observable	false	Inferred relationship	Some
Choroideraemia with deafness and obesity syndrome	Associated morphology	Dystrophy	false	Inferred relationship	Some	5
Choroideraemia with deafness and obesity syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Choroideraemia with deafness and obesity syndrome	Finding site	Retinal structure	false	Inferred relationship	Some	5
Choroideraemia with deafness and obesity syndrome	Is a	Choroideraemia	true	Inferred relationship	Some
Choroideraemia with deafness and obesity syndrome	Is a	Mixed conductive and sensorineural hearing loss	false	Inferred relationship	Some
Choroideraemia with deafness and obesity syndrome	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Choroideraemia with deafness and obesity syndrome	Occurrence	Congenital	false	Inferred relationship	Some	1
Choroideraemia with deafness and obesity syndrome	Finding site	Choroidal structure	true	Inferred relationship	Some	1
Choroideraemia with deafness and obesity syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Choroideraemia with deafness and obesity syndrome	Finding site	Ear structure	false	Inferred relationship	Some	2
Choroideraemia with deafness and obesity syndrome	Interprets	Body weight measure	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3310365015	Choroideremia with deafness and obesity syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3310366019	Choroideremia with deafness and obesity syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3310370010	Choroideraemia with deafness and obesity syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3310384017	Ayazi syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3850132014	Xq21 microdeletion syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core