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722019000: Oculootoradial syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3325063017 IVIC (Instituto Venezolano de Investigaciones Cientificas) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330144013 Oculootoradial syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330145014 Oculootoradial syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330146010 Oculo-oto-radial syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330147018 IVIC syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323311015 A very rare genetic malformation syndrome with characteristics of upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances and congenital bilateral non-progressive mixed hearing loss. Prevalence is not known. To date, four affected families from Venezuela, Italy, Hungary, and Turkey (discordant monozygotic twins) have been described. The syndrome has been linked to mutations in the SALL4 gene (20q13.2) encoding a transcription factor. Inherited in an autosomal dominant manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4815521000172113 IVIC-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
4815531000172111 oculo-otoradiaal syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Oculootoradial syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Oculootoradial syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Oculootoradial syndrome (disorder) Is a Congenital anomaly of upper limb true Inferred relationship Some
Oculootoradial syndrome (disorder) Is a Congenital hearing disorder false Inferred relationship Some
Oculootoradial syndrome (disorder) Is a Dysostosis true Inferred relationship Some
Oculootoradial syndrome (disorder) Is a Finding of bone of upper limb true Inferred relationship Some
Oculootoradial syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Oculootoradial syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Oculootoradial syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Oculootoradial syndrome (disorder) Finding site Structure of auditory system (body structure) false Inferred relationship Some 2
Oculootoradial syndrome (disorder) Interprets Hearing true Inferred relationship Some 3
Oculootoradial syndrome (disorder) Interprets Functional observable false Inferred relationship Some
Oculootoradial syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 4
Oculootoradial syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Oculootoradial syndrome (disorder) Finding site Bone structure of upper limb (body structure) false Inferred relationship Some 4
Oculootoradial syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Oculootoradial syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Oculootoradial syndrome (disorder) Finding site Bone structure of upper limb (body structure) true Inferred relationship Some 1
Oculootoradial syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Oculootoradial syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Oculootoradial syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Oculootoradial syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Some
Oculootoradial syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 3
Oculootoradial syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Oculootoradial syndrome (disorder) Is a Mixed conductive and sensorineural hearing loss, bilateral true Inferred relationship Some
Oculootoradial syndrome (disorder) Is a Congenital mixed conductive and sensorineural hearing loss true Inferred relationship Some
Oculootoradial syndrome (disorder) Finding site Left ear structure true Inferred relationship Some 4
Oculootoradial syndrome (disorder) Finding site Right ear structure true Inferred relationship Some 2
Oculootoradial syndrome (disorder) Is a Congenital dysplasia of limb (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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