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770757004: X-linked parkinsonism with spasticity syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3702478012 X-linked parkinsonism with spasticity syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3702479016 X-linked parkinsonism with spasticity syndrome en Synonym Active Case sensitive SNOMED CT core
3702480018 XPDS - X-linked parkinsonism with spasticity syndrome en Synonym Active Case sensitive SNOMED CT core
3702481019 A rare genetic neurological disorder with characteristics of parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. There is evidence this disease is caused by hemizygous mutation in the ATP6AP2 gene on chromosome Xp11. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked parkinsonism with spasticity syndrome Interprets Movement true Inferred relationship Some 5
X-linked parkinsonism with spasticity syndrome Has interpretation Slow true Inferred relationship Some 5
X-linked parkinsonism with spasticity syndrome Is a X-linked recessive hereditary disease true Inferred relationship Some
X-linked parkinsonism with spasticity syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
X-linked parkinsonism with spasticity syndrome Has interpretation Increased true Inferred relationship Some 1
X-linked parkinsonism with spasticity syndrome Is a X-linked hereditary disease false Inferred relationship Some
X-linked parkinsonism with spasticity syndrome Interprets Muscle tone true Inferred relationship Some 1
X-linked parkinsonism with spasticity syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
X-linked parkinsonism with spasticity syndrome Is a Disorder of skeletal muscle true Inferred relationship Some
X-linked parkinsonism with spasticity syndrome Finding site Skeletal muscle structure true Inferred relationship Some 2
X-linked parkinsonism with spasticity syndrome Is a Parkinsonism true Inferred relationship Some
X-linked parkinsonism with spasticity syndrome Is a Spasticity true Inferred relationship Some
X-linked parkinsonism with spasticity syndrome Finding site Basal ganglion structure true Inferred relationship Some 3

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

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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