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1220573009: primaire dystonie type 27 (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5045216019 Primary dystonia DYT27 type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5045217011 Primary dystonia type 27 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5045218018 Primary dystonia type 27 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
13605261000146115 primaire dystonie type 27 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13605271000146114 primaire dystonie type 27 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13605281000146111 primaire dystonie type DYT27 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
5045219014 A rare genetic dystonia with characteristics of focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive. 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
Primary dystonia DYT27 type Is a Dystonia true Inferred relationship Some
Primary dystonia DYT27 type Is a Hereditary disorder of nervous system true Inferred relationship Some
Primary dystonia DYT27 type Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Primary dystonia DYT27 type Interprets Movement true Inferred relationship Some 2
Primary dystonia DYT27 type Finding site Extrapyramidal system structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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