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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3702479016 X-linked parkinsonism with spasticity syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3702480018 XPDS - X-linked parkinsonism with spasticity syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
4518451000172113 X-gebonden parkinsonisme-spasticiteit-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
4518461000172110 syndroom van X-gebonden parkinsonisme met spasticiteit nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4518471000172118 XPDS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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