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723992000: Kufor Rakeb syndrome (disorder)


Status: current, Primitive. 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 Case sensitive SNOMED CT core
3428339018 Kufor Rakeb syndrome en Synonym Active Case sensitive SNOMED CT core
3428340016 PARK9 - Parkinson disease 9 en Synonym Active Case sensitive SNOMED CT core
3428341017 Parkinson disease 9 en Synonym Active Case sensitive SNOMED CT core
3428342012 A rare genetic neurodegenerative disorder with characteristics of juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy and cognitive impairment. There is evidence that this syndrome is caused by homozygous or compound heterozygous mutation in the ATP13A2 gene encoding a lysosomal type 5 ATPase, on chromosome 1p36. Some patients have neuroradiological evidence of iron deposition in the basal ganglia. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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