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763669001: Spastic ataxia with congenital miosis (disorder)


Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3643234011 Spastic ataxia with congenital miosis en Synonym Active Case insensitive SNOMED CT core
3643235012 Autosomal dominant spastic ataxia type 7 en Synonym Active Case insensitive SNOMED CT core
3643236013 Spastic ataxia with congenital miosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3643237016 A rare hereditary ataxia with characteristics of 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. Nystagmus may also be present. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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