702326000: Progressive myoclonus epilepsy with ataxia (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia
\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia
\Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia
\Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia

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

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia
\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia
\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia
\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia

\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\...

\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia

\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\...

\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia

\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Progressive myoclonus epilepsy with ataxia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive myoclonus epilepsy with ataxia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Progressive myoclonus epilepsy with ataxia
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Progressive myoclonus epilepsy with ataxia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia
\Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Tonic-clonic epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia
\Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Generalised epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia

Status: current, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2995418010 PRICKLE1-related progressive myoclonic epilepsy with ataxia en Synonym Active Case sensitive SNOMED CT core

2995588018 Progressive myoclonic epilepsy 1B en Synonym Active Initial character case insensitive SNOMED CT core

2995899014 Progressive myoclonus epilepsy with ataxia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

2995906010 Progressive myoclonus epilepsy with ataxia en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Progressive myoclonus epilepsy with ataxia	Interprets	Movement	false	Inferred relationship	Some	2
Progressive myoclonus epilepsy with ataxia	Is a	Progressive myoclonic epilepsy	true	Inferred relationship	Some
Progressive myoclonus epilepsy with ataxia	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Progressive myoclonus epilepsy with ataxia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Progressive myoclonus epilepsy with ataxia	Finding site	Structure of cerebrum	true	Inferred relationship	Some	1
Progressive myoclonus epilepsy with ataxia	Has definitional manifestation	Seizure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set