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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
5404915017 A rare, genetic, neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404916016 A rare, genetic, neurological disorder characterised by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5404915017 A rare, genetic, neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404916016 A rare, genetic, neurological disorder characterised by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3385801001000118 Parkinsonismus-Spastik-Syndrom, X-chromosomal de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3385801001000118 Parkinsonismus-Spastik-Syndrom, X-chromosomal de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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