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723992000: Kufor Rakeb syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3428338014 Kufor Rakeb syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3428339018 Kufor Rakeb syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3428340016 PARK9 - Parkinson disease 9 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3428341017 Parkinson disease 9 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403181013 Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403182018 Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterised by juvenile parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Kufor Rakeb syndrome (disorder) Is a Parkinsonism true Inferred relationship Some
Kufor Rakeb syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Kufor Rakeb syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Kufor Rakeb syndrome (disorder) Finding site Basal ganglion structure (body structure) true Inferred relationship Some 1
Kufor Rakeb syndrome (disorder) Interprets Movement true Inferred relationship Some 3
Kufor Rakeb syndrome (disorder) Has interpretation Slow true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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