763669001: Spastic ataxia with congenital miosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding related to coordination / incoordination\Ataxia\Hereditary ataxia\Spastic ataxia with congenital miosis

\Central nervous system finding\Disorder of the central nervous system\Spastic ataxia with congenital miosis

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis\Spastic ataxia with congenital miosis
\Finding of head region\Disorder of eye region\Disorder of eye proper\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis\Spastic ataxia with congenital miosis
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis\Spastic ataxia with congenital miosis
\Finding of head region\Globe finding\Disorder of eye proper\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis\Spastic ataxia with congenital miosis
\Finding of head region\Globe finding\Pupil finding\Finding of appearance of pupil\Finding of size of pupil\Constricted pupil\Congenital miosis\Spastic ataxia with congenital miosis
\Finding of head region\Globe finding\Pupil finding\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis\Spastic ataxia with congenital miosis

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis\Spastic ataxia with congenital miosis
\Disorder of head\Disorder of eye region\Disorder of eye proper\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis\Spastic ataxia with congenital miosis
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis\Spastic ataxia with congenital miosis

\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis\Spastic ataxia with congenital miosis
\Eye / vision finding\Globe finding\Disorder of eye proper\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis\Spastic ataxia with congenital miosis
\Eye / vision finding\Globe finding\Pupil finding\Finding of appearance of pupil\Finding of size of pupil\Constricted pupil\Congenital miosis\Spastic ataxia with congenital miosis
\Eye / vision finding\Globe finding\Pupil finding\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis\Spastic ataxia with congenital miosis
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis\Spastic ataxia with congenital miosis
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis\Spastic ataxia with congenital miosis
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\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\Spastic ataxia with congenital miosis

\Functional finding\Constricted pupil\Congenital miosis\Spastic ataxia with congenital miosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Spastic ataxia with congenital miosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\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 body system\Hereditary disorder by system\Hereditary disorder of the visual system\Spastic ataxia with congenital miosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Spastic ataxia with congenital miosis
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis\Spastic ataxia with congenital miosis
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis\Spastic ataxia with congenital miosis
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\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\Spastic ataxia with congenital miosis
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary ataxia\Spastic ataxia with congenital miosis
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Spastic ataxia with congenital miosis
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis\Spastic ataxia with congenital miosis
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Pupillary disorder\Congenital anomaly of pupil\Congenital miosis\Spastic ataxia with congenital miosis
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis\Spastic ataxia with congenital miosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis\Spastic ataxia with congenital miosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis\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\Spastic ataxia with congenital miosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of pupil\Congenital miosis\Spastic ataxia with congenital miosis

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

Descriptions:

Id Description Lang Type Status Case? Module

3643234011 Spastic ataxia with congenital miosis en Synonym Active Entire term case insensitive SNOMED CT core module

3643235012 Autosomal dominant spastic ataxia type 7 en Synonym Active Entire term case insensitive SNOMED CT core module

3643236013 Spastic ataxia with congenital miosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spastic ataxia with congenital miosis	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Spastic ataxia with congenital miosis	Is a	Disorder of the central nervous system	true	Inferred relationship	Existential restriction modifier
Spastic ataxia with congenital miosis	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Spastic ataxia with congenital miosis	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Spastic ataxia with congenital miosis	Is a	Congenital miosis	true	Inferred relationship	Existential restriction modifier
Spastic ataxia with congenital miosis	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	2
Spastic ataxia with congenital miosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Spastic ataxia with congenital miosis	Finding site	Iris structure	false	Inferred relationship	Existential restriction modifier	2
Spastic ataxia with congenital miosis	Is a	Hereditary ataxia	true	Inferred relationship	Existential restriction modifier
Spastic ataxia with congenital miosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Spastic ataxia with congenital miosis	Finding site	Structure of central nervous system	true	Inferred relationship	Existential restriction modifier	1
Spastic ataxia with congenital miosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Spastic ataxia with congenital miosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Spastic ataxia with congenital miosis	Is a	Functional finding	false	Inferred relationship	Existential restriction modifier
Spastic ataxia with congenital miosis	Interprets	Pupil constriction	true	Inferred relationship	Existential restriction modifier	3
Spastic ataxia with congenital miosis	Finding site	Pupil structure	true	Inferred relationship	Existential restriction modifier	2
Spastic ataxia with congenital miosis	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

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
3643234011	Spastic ataxia with congenital miosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3643235012	Autosomal dominant spastic ataxia type 7	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3643236013	Spastic ataxia with congenital miosis (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module