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 proper\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 proper\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 proper\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 proper\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 proper\...

\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 proper\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 proper\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 proper\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 proper\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\Disorder of respiratory system\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 proper\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 proper\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\Disorder of respiratory system\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 proper\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 proper\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

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 SNOMED CT core module

3315828012 Primary ciliary dyskinesia and retinitis pigmentosa syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

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
3315827019	Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3315828012	Primary ciliary dyskinesia and retinitis pigmentosa syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module