FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

703522009: Biotin-thiamine-responsive basal ganglia disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3009183015 Thiamine transporter-2 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3009257019 Thiamine metabolism dysfunction syndrome 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3009598010 Biotin-thiamine-responsive basal ganglia disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3009749016 Biotin-responsive basal ganglia disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3009782018 Biotin-thiamine-responsive basal ganglia disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3009183015 Thiamine transporter-2 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3009183015 Thiamine transporter-2 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3009257019 Thiamine metabolism dysfunction syndrome 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3009257019 Thiamine metabolism dysfunction syndrome 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3009598010 Biotin-thiamine-responsive basal ganglia disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3009598010 Biotin-thiamine-responsive basal ganglia disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3009749016 Biotin-responsive basal ganglia disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3009749016 Biotin-responsive basal ganglia disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3009782018 Biotin-thiamine-responsive basal ganglia disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3009782018 Biotin-thiamine-responsive basal ganglia disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3009805011 Thiamine-responsive encephalopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3391771001000118 Biotin-Thiamin-responsive Störung der Basalganglien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
936911000172111 BBGD - biotin-thiamine-responsive basal ganglia disease fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
988271000172116 maladie des noyaux gris centraux sensible à la biotine et à la thiamine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
936911000172111 BBGD - biotin-thiamine-responsive basal ganglia disease fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
988271000172116 maladie des noyaux gris centraux sensible à la biotine et à la thiamine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3391771001000118 Biotin-Thiamin-responsive Störung der Basalganglien 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
Biotin-thiamine-responsive basal ganglia disease (disorder) Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Biotin-thiamine-responsive basal ganglia disease (disorder) Is a Disorder of basal ganglia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Biotin-thiamine-responsive basal ganglia disease (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Biotin-thiamine-responsive basal ganglia disease (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Biotin-thiamine-responsive basal ganglia disease (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Biotin-thiamine-responsive basal ganglia disease (disorder) Finding site Basal ganglion structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start