702326000: progressieve myoklonische epilepsie met ataxie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia (disorder)

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia (disorder)

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Progressive myoclonus epilepsy with ataxia (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive myoclonus epilepsy with ataxia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Progressive myoclonus epilepsy with ataxia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Progressive myoclonus epilepsy with ataxia (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Progressive myoclonic epilepsy\Progressive myoclonus epilepsy with ataxia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2995588018 Progressive myoclonic epilepsy 1B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2995899014 Progressive myoclonus epilepsy with ataxia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995906010 Progressive myoclonus epilepsy with ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5027951000146113 progressieve myoclonusepilepsie met ataxie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5027961000146111 progressieve myoklonische epilepsie met ataxie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11491711000146117 progressieve myoklonische epilepsie met ataxie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets