FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.12  |  FHIR Version n/a  User: [n/a]

771238004: syndroom van spinale spieratrofie, oftalmoplegie en piramidale symptomen (aandoening)


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
3705199011 Hamano Tsukamoto syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3705202018 Spinal atrophy, ophthalmoplegia, pyramidal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705203011 Spinal atrophy, ophthalmoplegia, pyramidal syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6956241000146113 syndroom van spinale spieratrofie, oftalmoplegie en piramidale symptomen (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6956251000146111 syndroom van spinale spieratrofie, oftalmoplegie en piramidale symptomen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3705200014 A rare bulbospinal muscular atrophy characterised by generalised neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3705201013 A rare bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994. 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
Spinal atrophy, ophthalmoplegia, pyramidal syndrome Finding site Structure of visual system (body structure) true Inferred relationship Some 2
Spinal atrophy, ophthalmoplegia, pyramidal syndrome Finding site Structure of nervous system (body structure) true Inferred relationship Some 1
Spinal atrophy, ophthalmoplegia, pyramidal syndrome Is a Spinal muscular atrophy true Inferred relationship Some
Spinal atrophy, ophthalmoplegia, pyramidal syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Spinal atrophy, ophthalmoplegia, pyramidal syndrome Is a Ophthalmoplegia true Inferred relationship Some
Spinal atrophy, ophthalmoplegia, pyramidal syndrome Interprets Movement true Inferred relationship Some 4
Spinal atrophy, ophthalmoplegia, pyramidal syndrome Interprets Movement observable true Inferred relationship Some 3
Spinal atrophy, ophthalmoplegia, pyramidal syndrome Has interpretation Absent true Inferred relationship Some 3
Spinal atrophy, ophthalmoplegia, pyramidal syndrome Clinical course Progressive (qualifier value) true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start