FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

1230014007: Duane-retractiesyndroom met congenitale doofheid (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
5066397011 Duane retraction syndrome with congenital deafness en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5066398018 Duane retraction syndrome with congenital deafness (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5066399014 Duane retraction syndrome with congenital hearing loss en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
13607431000146118 Duane-retractiesyndroom met congenitale doofheid nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13607441000146114 retractiesyndroom van Duane met congenitaal gehoorverlies nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13607451000146112 Duane-retractiesyndroom met congenitale doofheid (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
5066400019 A rare neurologic disease with characteristics of the presence of Duane retraction syndrome (i.e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome. 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
Duane retraction syndrome with congenital deafness Is a Decreased hearing (finding) true Inferred relationship Some
Duane retraction syndrome with congenital deafness Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Duane retraction syndrome with congenital deafness Is a Duane's syndrome, type 3 true Inferred relationship Some
Duane retraction syndrome with congenital deafness Is a Auditory system hereditary disorder true Inferred relationship Some
Duane retraction syndrome with congenital deafness Is a Developmental hereditary disorder true Inferred relationship Some
Duane retraction syndrome with congenital deafness Is a Hereditary disorder of nervous system true Inferred relationship Some
Duane retraction syndrome with congenital deafness Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Duane retraction syndrome with congenital deafness Is a Congenital hearing disorder false Inferred relationship Some
Duane retraction syndrome with congenital deafness Interprets Hearing true Inferred relationship Some 4
Duane retraction syndrome with congenital deafness Has interpretation Decreased true Inferred relationship Some 4
Duane retraction syndrome with congenital deafness Occurrence Congenital true Inferred relationship Some 1
Duane retraction syndrome with congenital deafness Finding site Abducens nerve structure true Inferred relationship Some 1
Duane retraction syndrome with congenital deafness Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Duane retraction syndrome with congenital deafness Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Duane retraction syndrome with congenital deafness Occurrence Congenital true Inferred relationship Some 2
Duane retraction syndrome with congenital deafness Finding site Eye structure true Inferred relationship Some 2
Duane retraction syndrome with congenital deafness Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Duane retraction syndrome with congenital deafness Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Duane retraction syndrome with congenital deafness Occurrence Congenital true Inferred relationship Some 3
Duane retraction syndrome with congenital deafness Finding site Structure of auditory system (body structure) true Inferred relationship Some 3
Duane retraction syndrome with congenital deafness Is a Hearing loss associated with syndrome true Inferred relationship Some
Duane retraction syndrome with congenital deafness Is a Disorder of sensory function (disorder) true Inferred relationship Some
Duane retraction syndrome with congenital deafness Is a Congenital hearing loss (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start