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702326000: 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
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 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 Only initial character 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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Progressive myoclonus epilepsy with ataxia (disorder) Is a Progressive myoclonic epilepsy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonus epilepsy with ataxia (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonus epilepsy with ataxia (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonus epilepsy with ataxia (disorder) Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. false Inferred relationship Existential restriction modifier (core metadata concept) 1
Progressive myoclonus epilepsy with ataxia (disorder) Has definitional manifestation Seizure false Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonus epilepsy with ataxia (disorder) Interprets Movement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Progressive myoclonus epilepsy with ataxia (disorder) Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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