763669001: Spastic ataxia with congenital miosis (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)\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Head finding (finding)\Finding of head region\Globe finding\Pupil finding\Finding of appearance of pupil\Finding of size of pupil (finding)\Constricted pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Head finding (finding)\Finding of head region\Globe finding\Pupil finding\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Finding related to coordination / incoordination (finding)\Ataxia\Hereditary ataxia (disorder)\Spastic ataxia with congenital miosis
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic ataxia with congenital miosis
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Eye / vision finding\Globe finding\Pupil finding\Finding of appearance of pupil\Finding of size of pupil (finding)\Constricted pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Eye / vision finding\Globe finding\Pupil finding\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Spastic ataxia with congenital miosis
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Functional finding\Constricted pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Spastic ataxia with congenital miosis
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spastic ataxia with congenital miosis
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spastic ataxia with congenital miosis
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Spastic ataxia with congenital miosis
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Spastic ataxia with congenital miosis
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spastic ataxia with congenital miosis
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Spastic ataxia with congenital miosis
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Spastic ataxia with congenital miosis
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic ataxia with congenital miosis
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\Developmental disorder\Developmental hereditary disorder\Spastic ataxia with congenital miosis
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis (disorder)\Spastic ataxia with congenital miosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3643234011	Spastic ataxia with congenital miosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643235012	Autosomal dominant spastic ataxia type 7	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643236013	Spastic ataxia with congenital miosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404137013	Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404138015	Spastic ataxia with congenital miosis is a rare hereditary ataxia characterised by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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