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722019000: Oculootoradial syndrome (disorder)


Status: current, Primitive. 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 Active Case sensitive SNOMED CT core
3330144013 Oculootoradial syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3330145014 Oculootoradial syndrome en Synonym Active Case insensitive SNOMED CT core
3330146010 Oculo-oto-radial syndrome en Synonym Active Case insensitive SNOMED CT core
3330147018 IVIC syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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