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 |
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 | Inactive | 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 | 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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
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. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
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. | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
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. | Is a | Congenital anomaly of upper limb | true | Inferred relationship | Some | ||
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. | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
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. | Is a | Dysostosis | true | Inferred relationship | Some | ||
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. | Is a | Finding of bone of upper limb | true | Inferred relationship | Some | ||
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. | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
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. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
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. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
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. | Finding site | Structure of auditory system (body structure) | false | Inferred relationship | Some | 2 | |
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. | Interprets | Hearing | true | Inferred relationship | Some | 3 | |
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. | Interprets | træk vedr. funktion | false | Inferred relationship | Some | ||
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. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 4 | |
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. | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
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. | Finding site | Bone structure of upper limb (body structure) | false | Inferred relationship | Some | 4 | |
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. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
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. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 1 | |
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. | Finding site | Bone structure of upper limb (body structure) | true | Inferred relationship | Some | 1 | |
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. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
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. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
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. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
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. | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
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. | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
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. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
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. | Is a | Mixed conductive and sensorineural hearing loss, bilateral | true | Inferred relationship | Some | ||
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. | Is a | Congenital mixed conductive and sensorineural hearing loss | true | Inferred relationship | Some | ||
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. | Finding site | Left ear structure | true | Inferred relationship | Some | 4 | |
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. | Finding site | Right ear structure | true | Inferred relationship | Some | 2 | |
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. | Is a | Congenital dysplasia of limb (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)