1010610007: Retinitis pigmentosa-deafness syndrome type 3 (disorder)

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

\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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness syndrome type 3 (disorder)
\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 syndrome type 3 (disorder)
\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 syndrome type 3 (disorder)
\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 syndrome type 3 (disorder)
\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 syndrome type 3 (disorder)

\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 syndrome type 3 (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 syndrome type 3 (disorder)

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness syndrome type 3 (disorder)
\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 syndrome type 3 (disorder)
\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 syndrome type 3 (disorder)
\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 syndrome type 3 (disorder)
\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 syndrome type 3 (disorder)

\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 syndrome type 3 (disorder)
\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 syndrome type 3 (disorder)
\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 syndrome type 3 (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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness syndrome type 3 (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 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 syndrome type 3 (disorder)
\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 syndrome type 3 (disorder)

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

\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness syndrome type 3 (disorder)

\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness syndrome type 3 (disorder)

\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 syndrome type 3 (disorder)
\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 syndrome type 3 (disorder)
\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 syndrome type 3 (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness syndrome type 3 (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness syndrome type 3 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness syndrome type 3 (disorder)
\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 syndrome type 3 (disorder)
\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 syndrome type 3 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness syndrome type 3 (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness syndrome type 3 (disorder)
\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 syndrome type 3 (disorder)
\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 syndrome type 3 (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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness syndrome type 3 (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 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 syndrome type 3 (disorder)
\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 syndrome type 3 (disorder)
\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 syndrome type 3 (disorder)
\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 syndrome type 3 (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness syndrome type 3 (disorder)
\Disease\Congenital disease (disorder)\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness syndrome type 3 (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness syndrome type 3 (disorder)
\Disease\Developmental disorder\Congenital malformation\Retinitis pigmentosa-deafness syndrome\Retinitis pigmentosa-deafness syndrome type 3 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4213324014	Usher syndrome type 3	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4279326016	Retinitis pigmentosa-deafness syndrome type 3 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4279327013	Retinitis pigmentosa-deafness syndrome type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4263431000172116	syndroom van Usher type 3	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4263441000172111	Usher-syndroom type 3	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4263451000172113	syndroom van retinitis pigmentosa en doofheid type 3	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)