FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

715768000: Autosomal dominant dopa responsive dystonia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3303652013 Autosomal dominant dopa responsive dystonia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303653015 Autosomal dominant dopa responsive dystonia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303654014 Autosomal dominant Segawa syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303655010 Hereditary progressive dystonia with marked diurnal fluctuation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401081018 A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401082013 A rare neurometabolic disorder characterised by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age. 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
Autosomal dominant dopa responsive dystonia (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Autosomal dominant dopa responsive dystonia (disorder) Is a Diurnal dystonia true Inferred relationship Some
Autosomal dominant dopa responsive dystonia (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Autosomal dominant dopa responsive dystonia (disorder) Finding site Extrapyramidal system structure true Inferred relationship Some 1
Autosomal dominant dopa responsive dystonia (disorder) Interprets Movement true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start