725146001: Atypical juvenile parkinsonism (disorder)

Id Description Lang Type Status Case? Module

3439450015 Atypical juvenile parkinsonism (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3439451016 Atypical juvenile parkinsonism en Synonym Active Case insensitive SNOMED CT core

3439452011 A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. To date, only six families have been reported. Mutations in the genes ATP13A2 (1p36), PLA2G6 (22q13.1), FBXO7 (22q12.3), DNAJC6 (1p31.3), SPG11 (15q13-q15), SPG15 (14q24.1) and SYNJ1 (21q22.2) are associated with this disease. Usually occurs in an autosomal recessive manner however, sporadic cases have also been reported and the majority of these cases are born from consanguineous parents. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Atypical juvenile parkinsonism	Causative agent	Alpha-synuclein	false	Inferred relationship	Some	1
Atypical juvenile parkinsonism	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Atypical juvenile parkinsonism	Interprets	Movement	true	Inferred relationship	Some	3
Atypical juvenile parkinsonism	Has interpretation	Slow	true	Inferred relationship	Some	3
Atypical juvenile parkinsonism	Is a	Young onset Parkinson's disease	true	Inferred relationship	Some
Atypical juvenile parkinsonism	Is a	Atypical Parkinsonism	true	Inferred relationship	Some
Atypical juvenile parkinsonism	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

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3439450015	Atypical juvenile parkinsonism (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3439451016	Atypical juvenile parkinsonism	en	Synonym	Active	Case insensitive	SNOMED CT core
3439452011	A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. To date, only six families have been reported. Mutations in the genes ATP13A2 (1p36), PLA2G6 (22q13.1), FBXO7 (22q12.3), DNAJC6 (1p31.3), SPG11 (15q13-q15), SPG15 (14q24.1) and SYNJ1 (21q22.2) are associated with this disease. Usually occurs in an autosomal recessive manner however, sporadic cases have also been reported and the majority of these cases are born from consanguineous parents.	en	Definition	Active	Case sensitive	SNOMED CT core