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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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked parkinsonism with spasticity syndrome (disorder) interprète (attribut) Movement (observable entity) true Inferred relationship Some 5
X-linked parkinsonism with spasticity syndrome (disorder) a pour interprétation (attribut) lent true Inferred relationship Some 5
X-linked parkinsonism with spasticity syndrome (disorder) est un(e) (attribut) X-linked recessive hereditary disease true Inferred relationship Some
X-linked parkinsonism with spasticity syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
X-linked parkinsonism with spasticity syndrome (disorder) a pour interprétation (attribut) augmenté true Inferred relationship Some 1
X-linked parkinsonism with spasticity syndrome (disorder) est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
X-linked parkinsonism with spasticity syndrome (disorder) interprète (attribut) Muscle tone true Inferred relationship Some 1
X-linked parkinsonism with spasticity syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
X-linked parkinsonism with spasticity syndrome (disorder) est un(e) (attribut) affection d'un muscle squelettique true Inferred relationship Some
X-linked parkinsonism with spasticity syndrome (disorder) localisation d'une constatation (attribut) structure de muscle squelettique true Inferred relationship Some 2
X-linked parkinsonism with spasticity syndrome (disorder) est un(e) (attribut) parkinsonisme true Inferred relationship Some
X-linked parkinsonism with spasticity syndrome (disorder) est un(e) (attribut) Spasticity true Inferred relationship Some
X-linked parkinsonism with spasticity syndrome (disorder) localisation d'une constatation (attribut) Basal ganglion structure (body structure) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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