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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
5402771014 IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402772019 IVIC syndrome is a very rare genetic malformation syndrome characterised by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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 Only initial character case insensitive (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 Only initial character 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 Only initial character 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
5402771014 IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402772019 IVIC syndrome is a very rare genetic malformation syndrome characterised by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3453021001000115 IVIC-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3453021001000115 IVIC-Syndrom 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
Oculootoradial syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Oculootoradial syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Oculootoradial syndrome (disorder) Is a Congenital anomaly of upper limb true Inferred relationship Existential restriction modifier (core metadata concept)
Oculootoradial syndrome (disorder) Is a Congenital hearing disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Oculootoradial syndrome (disorder) Is a Dysostosis true Inferred relationship Existential restriction modifier (core metadata concept)
Oculootoradial syndrome (disorder) Is a Finding of bone of upper limb true Inferred relationship Existential restriction modifier (core metadata concept)
Oculootoradial syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Oculootoradial syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Oculootoradial syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Oculootoradial syndrome (disorder) Finding site Structure of auditory system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Oculootoradial syndrome (disorder) Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 3
Oculootoradial syndrome (disorder) Interprets entité observable fonctionnelle false Inferred relationship Existential restriction modifier (core metadata concept)
Oculootoradial syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Oculootoradial syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Oculootoradial syndrome (disorder) Finding site Bone structure of upper limb (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Oculootoradial syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Oculootoradial syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Oculootoradial syndrome (disorder) Finding site Bone structure of upper limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Oculootoradial syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Oculootoradial syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Oculootoradial syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Oculootoradial syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Oculootoradial syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Oculootoradial syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Oculootoradial syndrome (disorder) Is a Mixed conductive and sensorineural hearing loss, bilateral (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Oculootoradial syndrome (disorder) Is a Congenital mixed conductive and sensorineural hearing loss true Inferred relationship Existential restriction modifier (core metadata concept)
Oculootoradial syndrome (disorder) Finding site Left ear structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Oculootoradial syndrome (disorder) Finding site Right ear structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Oculootoradial syndrome (disorder) Is a Congenital dysplasia of limb (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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