719102004: Congenital cataract with ataxia and deafness syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Congenital cataract with ataxia and deafness syndrome

\Finding related to coordination / incoordination\Ataxia\Hereditary ataxia\Congenital cataract with ataxia and deafness syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Congenital cataract with ataxia and deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Congenital cataract with ataxia and deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital cataract with ataxia and deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Congenital cataract with ataxia and deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital cataract with ataxia and deafness syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Congenital cataract with ataxia and deafness syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Congenital cataract with ataxia and deafness syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Congenital cataract with ataxia and deafness syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Congenital cataract with ataxia and deafness syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital cataract with ataxia and deafness syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Congenital cataract with ataxia and deafness syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Congenital cataract with ataxia and deafness syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Congenital cataract with ataxia and deafness syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Congenital cataract with ataxia and deafness syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital cataract with ataxia and deafness syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital cataract with ataxia and deafness syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disease\Chronic disease\Chronic nervous system disorder\Congenital cataract with ataxia and deafness syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Congenital cataract with ataxia and deafness syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital cataract with ataxia and deafness syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with ataxia and deafness syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3314990018 Congenital cataract with ataxia and deafness syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3314991019 Congenital cataract with ataxia and deafness syndrome en Synonym Active Case insensitive SNOMED CT core

3314992014 This syndrome has characteristics of mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital cataract with ataxia and deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital cataract with ataxia and deafness syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	1
Congenital cataract with ataxia and deafness syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Congenital cataract with ataxia and deafness syndrome	Associated morphology	Cataract	false	Inferred relationship	Some	1
Congenital cataract with ataxia and deafness syndrome	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Some	1
Congenital cataract with ataxia and deafness syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	2
Congenital cataract with ataxia and deafness syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Congenital cataract with ataxia and deafness syndrome	Is a	Chronic mental disorder	false	Inferred relationship	Some
Congenital cataract with ataxia and deafness syndrome	Is a	Chronic nervous system disorder	true	Inferred relationship	Some
Congenital cataract with ataxia and deafness syndrome	Clinical course	Progressive	true	Inferred relationship	Some	4
Congenital cataract with ataxia and deafness syndrome	Finding site	Structure of nervous system	true	Inferred relationship	Some	5
Congenital cataract with ataxia and deafness syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	6
Congenital cataract with ataxia and deafness syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Congenital cataract with ataxia and deafness syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	7
Congenital cataract with ataxia and deafness syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7
Congenital cataract with ataxia and deafness syndrome	Is a	Ataxia	false	Inferred relationship	Some
Congenital cataract with ataxia and deafness syndrome	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Congenital cataract with ataxia and deafness syndrome	Is a	Congenital cataract	true	Inferred relationship	Some
Congenital cataract with ataxia and deafness syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital cataract with ataxia and deafness syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Congenital cataract with ataxia and deafness syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Congenital cataract with ataxia and deafness syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Congenital cataract with ataxia and deafness syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Congenital cataract with ataxia and deafness syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Congenital cataract with ataxia and deafness syndrome	Finding site	Ear structure	false	Inferred relationship	Some	2
Congenital cataract with ataxia and deafness syndrome	Interprets	Hearing	true	Inferred relationship	Some	3
Congenital cataract with ataxia and deafness syndrome	Interprets	Functional observable	false	Inferred relationship	Some
Congenital cataract with ataxia and deafness syndrome	Associated morphology	Congenital cataract	false	Inferred relationship	Some	4
Congenital cataract with ataxia and deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Congenital cataract with ataxia and deafness syndrome	Finding site	Structure of lens of eye	false	Inferred relationship	Some	4
Congenital cataract with ataxia and deafness syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Congenital cataract with ataxia and deafness syndrome	Is a	Hereditary ataxia	true	Inferred relationship	Some

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
3314990018	Congenital cataract with ataxia and deafness syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3314991019	Congenital cataract with ataxia and deafness syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3314992014	This syndrome has characteristics of mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core