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725392005: Autosomal dominant striatal neurodegeneration (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3441978014 Autosomal dominant striatal neurodegeneration (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3441979018 Autosomal dominant striatal neurodegeneration en Synonym Active Case insensitive SNOMED CT core
3441980015 ADSD - autosomal dominant striatal neurodegeneration en Synonym Active Case sensitive SNOMED CT core
3441981016 An adult-onset movement disorder with characteristics of bradykinesia, dysarthria and muscle rigidity. To date the disease has been observed in seven individuals in one family. Onset of symptoms is in the fourth to fifth decade of life with mild progressive dysarthria and hypokinesia. Dysdiadochokinesia is also present and muscle tone is slightly increased. Dysfunction and changes of the striatal part of the basal ganglia are visible on magnetic resonance imaging. Caused by mutation in the PDE8B gene (5q13.3-q14.1) and transmitted in an autosomal dominant manner with complete penetrance in the investigated family. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant striatal neurodegeneration Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal dominant striatal neurodegeneration Is a Hereditary degenerative disease of central nervous system true Inferred relationship Some
Autosomal dominant striatal neurodegeneration Interprets Movement true Inferred relationship Some 3
Autosomal dominant striatal neurodegeneration Has interpretation Slow true Inferred relationship Some 3
Autosomal dominant striatal neurodegeneration Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Autosomal dominant striatal neurodegeneration Is a Parkinsonism true Inferred relationship Some
Autosomal dominant striatal neurodegeneration Is a Hereditary disorder of nervous system false Inferred relationship Some
Autosomal dominant striatal neurodegeneration Is a Cerebral degeneration true Inferred relationship Some
Autosomal dominant striatal neurodegeneration Associated morphology Degeneration false Inferred relationship Some 1
Autosomal dominant striatal neurodegeneration Finding site Corpus striatum structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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