719282008: Primary ciliary dyskinesia and retinitis pigmentosa 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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome
\Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\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
\Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\...

\Anomaly of eye\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 of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome

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

\Functional finding\Mucociliary clearance defect\Inherited mucociliary clearance defect\Primary ciliary dyskinesia and retinitis pigmentosa syndrome

\Respiratory finding\Respiratory disease\Mucociliary clearance defect\Inherited mucociliary clearance defect\Primary ciliary dyskinesia and retinitis pigmentosa syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Inherited mucociliary clearance defect\Primary ciliary dyskinesia and retinitis pigmentosa syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Primary ciliary dyskinesia and retinitis pigmentosa syndrome
\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
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome
\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
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Inherited mucociliary clearance defect\Primary ciliary dyskinesia and retinitis pigmentosa syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\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
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome
\Disease\Disorder of body system\Respiratory disease\Mucociliary clearance defect\Inherited mucociliary clearance defect\Primary ciliary dyskinesia and retinitis pigmentosa syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\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
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\X-linked retinitis pigmentosa\Primary ciliary dyskinesia and retinitis pigmentosa syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Primary ciliary dyskinesia and retinitis pigmentosa syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3315828012 Primary ciliary dyskinesia and retinitis pigmentosa syndrome en Synonym Active Case insensitive SNOMED CT core

3315829016 An X-linked ciliary dysfunction disorder of both the respiratory epithelium and photoreceptors of the retina. This leads to ocular problems including mild night blindness, constriction of the visual field and scotopic and photopic ERG responses reduced to 30-60%. It is also associated with primary ciliary dyskinesia manifestations including chronic bronchorrhea with bronchoectasis and chronic sinusitis along with sensorineural hearing loss. en Definition Active Case sensitive SNOMED CT core

3315830014 An X-linked ciliary dysfunction disorder of both the respiratory epithelium and photoreceptors of the retina. This leads to ocular problems including mild night blindness, constriction of the visual field and scotopic and photopic ERG responses reduced to 30-60%. It is also associated with primary ciliary dyskinesia manifestations including chronic bronchorrhoea with bronchoectasis and chronic sinusitis along with sensorineural hearing loss. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Respiratory finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3315827019	Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3315828012	Primary ciliary dyskinesia and retinitis pigmentosa syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3315829016	An X-linked ciliary dysfunction disorder of both the respiratory epithelium and photoreceptors of the retina. This leads to ocular problems including mild night blindness, constriction of the visual field and scotopic and photopic ERG responses reduced to 30-60%. It is also associated with primary ciliary dyskinesia manifestations including chronic bronchorrhea with bronchoectasis and chronic sinusitis along with sensorineural hearing loss.	en	Definition	Active	Case sensitive	SNOMED CT core
3315830014	An X-linked ciliary dysfunction disorder of both the respiratory epithelium and photoreceptors of the retina. This leads to ocular problems including mild night blindness, constriction of the visual field and scotopic and photopic ERG responses reduced to 30-60%. It is also associated with primary ciliary dyskinesia manifestations including chronic bronchorrhoea with bronchoectasis and chronic sinusitis along with sensorineural hearing loss.	en	Definition	Active	Case sensitive	SNOMED CT core