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SNOMED CT
Last uploaded:
January 16, 2025
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Id | http://purl.bioontology.org/ontology/SNOMEDCT/723992000
http://purl.bioontology.org/ontology/SNOMEDCT/723992000
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Preferred Name | Kufor Rakeb syndrome |
Definitions |
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.
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Synonyms |
PARK9 - Parkinson disease 9
Parkinson disease 9
Kufor Rakeb syndrome (disorder)
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | 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. |
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altLabel |
PARK9 - Parkinson disease 9
Parkinson disease 9
Kufor Rakeb syndrome (disorder)
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prefLabel | Kufor Rakeb syndrome
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Type ID |
900000000000003001
900000000000013009
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CASE SIGNIFICANCE ID | 900000000000017005
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notation | 723992000
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Effective time | 20170731
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Active | 1
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Has finding site | |
interprets | |
subClassOf | |
Semantic type UMLS property | |
Has interpretation | |
type | |
Subset member | 447562003~MAPTARGET~G23.0
447562003~MAPRULE~TRUE
900000000000497000~MAPTARGET~XUvGU
6011000124106~MAPGROUP~1
6011000124106~MAPTARGET~G31.89
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS G31.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
447562003~MAPADVICE~ALWAYS G23.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
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DEFINITION STATUS ID | 900000000000074008
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tui | T047
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CTV3ID | XUvGU
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cui | C1847640
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Subject | Author | Type | Class | Created |
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ICD-10-CM 2018 | Certified+Professional+Coder+ | Comment | http://purl.bioontology.org/ontology/SNOMEDCT/40068008 | 2018-06-08 |
Surgical specialty should be surgury? | jimmccusker | Comment | http://purl.bioontology.org/ontology/SNOMEDCT/394732004 | 2012-09-26 |
SNOMEDCT | kotharu | Comment | http://purl.bioontology.org/ontology/SNOMEDCT/123037004 | 2012-04-17 |
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