73119000: Retinitis pigmentosa-deafness-ataxia syndrome (disorder)

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

\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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\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 vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\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 vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome

\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome

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

\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome

\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\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 vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome
\Disease\Developmental disorder\Congenital malformation\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness-ataxia syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

121439016 Retinitis pigmentosa-deafness-ataxia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

121440019 Hallgren's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

813472015 Retinitis pigmentosa-deafness-ataxia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Retinitis pigmentosa-deafness-ataxia syndrome	Is a	Retinitis pigmentosa-deafness syndrome	true	Inferred relationship	Some
Retinitis pigmentosa-deafness-ataxia syndrome	Finding site	Retinal structure	false	Inferred relationship	Some
Retinitis pigmentosa-deafness-ataxia syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Retinitis pigmentosa-deafness-ataxia syndrome	Finding site	Retinal structure	true	Inferred relationship	Some	1
Retinitis pigmentosa-deafness-ataxia syndrome	Finding site	Structure of auditory system (body structure)	false	Inferred relationship	Some
Retinitis pigmentosa-deafness-ataxia syndrome	Interprets	Hearing	true	Inferred relationship	Some	3
Retinitis pigmentosa-deafness-ataxia syndrome	Interprets	Functional observable	false	Inferred relationship	Some
Retinitis pigmentosa-deafness-ataxia syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Retinitis pigmentosa-deafness-ataxia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Retinitis pigmentosa-deafness-ataxia syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Retinitis pigmentosa-deafness-ataxia syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Retinitis pigmentosa-deafness-ataxia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Retinitis pigmentosa-deafness-ataxia syndrome	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
121439016	Retinitis pigmentosa-deafness-ataxia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
121440019	Hallgren's syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
813472015	Retinitis pigmentosa-deafness-ataxia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core