719282008: Primary ciliary dyskinesia and retinitis pigmentosa 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\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
\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\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
\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\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
\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\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
\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\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
\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\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)

\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (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\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (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\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa 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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa 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 vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)

\Functional finding\Finding of respiratory function (finding)\Mucociliary clearance defect\Inherited mucociliary clearance defect\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)

\Respiratory finding\Finding of respiration\Finding of respiratory function (finding)\Mucociliary clearance defect\Inherited mucociliary clearance defect\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
\Respiratory finding\Disorder of respiratory system (disorder)\Mucociliary clearance defect\Inherited mucociliary clearance defect\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (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\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (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\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Inherited mucociliary clearance defect\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Inherited mucociliary clearance defect\Primary ciliary dyskinesia and retinitis pigmentosa 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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa 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 vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
\Disease\Disorder of body system\Disorder of respiratory system (disorder)\Mucociliary clearance defect\Inherited mucociliary clearance defect\Primary ciliary dyskinesia and retinitis pigmentosa 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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa 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 vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Primary ciliary dyskinesia and retinitis pigmentosa 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

3315827019 Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3315828012 Primary ciliary dyskinesia and retinitis pigmentosa syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5402053014 Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchiectasis and chronic sinusitis) and sensorineural hearing loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5425048018 Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhoea with bronchiectasis and chronic sinusitis) and sensorineural hearing loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Is a	Retinitis pigmentosa	false	Inferred relationship	Some
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Is a	Immotile cilia syndrome	false	Inferred relationship	Some
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	3
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Finding site	Retinal structure	true	Inferred relationship	Some	3
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Associated morphology	Dystrophy	false	Inferred relationship	Some	2
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Finding site	Retinal structure	false	Inferred relationship	Some	2
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Associated morphology	Defect	false	Inferred relationship	Some	1
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Finding site	Respiratory tract structure	false	Inferred relationship	Some	1
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Interprets	Mucociliary clearance	true	Inferred relationship	Some	4
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Is a	Inherited mucociliary clearance defect	true	Inferred relationship	Some
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Is a	Developmental disorder	false	Inferred relationship	Some
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Is a	X-linked retinitis pigmentosa	true	Inferred relationship	Some
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Finding site	Respiratory tract structure	true	Inferred relationship	Some	2
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Associated morphology	Defect	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3315827019	Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3315828012	Primary ciliary dyskinesia and retinitis pigmentosa syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402053014	Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchiectasis and chronic sinusitis) and sensorineural hearing loss.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5425048018	Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhoea with bronchiectasis and chronic sinusitis) and sensorineural hearing loss.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core