722019000: Oculootoradial syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Oculootoradial syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Oculootoradial syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of bone of upper limb\Oculootoradial syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Oculootoradial syndrome (disorder)

\constatation fonctionnelle\constatation sur l'audition\Hearing disorder\...

\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Oculootoradial syndrome (disorder)

\perte auditive (trouble)\Hearing loss of left ear (disorder)\Conductive hearing loss of left ear\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\perte auditive (trouble)\Hearing loss of left ear (disorder)\Bilateral hearing loss\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\perte auditive (trouble)\Hearing loss of right ear (disorder)\Conductive hearing loss of right ear (disorder)\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\perte auditive (trouble)\Hearing loss of right ear (disorder)\Bilateral hearing loss\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\perte auditive (trouble)\Hearing loss associated with syndrome\Oculootoradial syndrome (disorder)
\perte auditive (trouble)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Oculootoradial syndrome (disorder)
\perte auditive (trouble)\Sensorineural hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Oculootoradial syndrome (disorder)
\perte auditive (trouble)\Sensorineural hearing loss\Mixed conductive AND sensorineural hearing loss\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\perte auditive (trouble)\Conductive hearing loss (disorder)\Conductive hearing loss of left ear\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\perte auditive (trouble)\Conductive hearing loss (disorder)\Conductive hearing loss of right ear (disorder)\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\perte auditive (trouble)\Conductive hearing loss (disorder)\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Oculootoradial syndrome (disorder)
\perte auditive (trouble)\Conductive hearing loss (disorder)\Mixed conductive AND sensorineural hearing loss\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Finding of bone of upper limb\Oculootoradial syndrome (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Oculootoradial syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Oculootoradial syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Oculootoradial syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Oculootoradial syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Oculootoradial syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Oculootoradial syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Oculootoradial syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Oculootoradial syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Oculootoradial syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss of left ear (disorder)\Conductive hearing loss of left ear\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss of left ear (disorder)\Bilateral hearing loss\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss of right ear (disorder)\Conductive hearing loss of right ear (disorder)\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss of right ear (disorder)\Bilateral hearing loss\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Mixed conductive AND sensorineural hearing loss\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Conductive hearing loss (disorder)\Conductive hearing loss of left ear\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Conductive hearing loss (disorder)\Conductive hearing loss of right ear (disorder)\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Conductive hearing loss (disorder)\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Conductive hearing loss (disorder)\Mixed conductive AND sensorineural hearing loss\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Disorder of right ear (disorder)\Conductive hearing loss of right ear (disorder)\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Disorder of left ear (disorder)\Conductive hearing loss of left ear\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Conductive hearing loss (disorder)\Conductive hearing loss of left ear\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Conductive hearing loss (disorder)\Conductive hearing loss of right ear (disorder)\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Conductive hearing loss (disorder)\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Conductive hearing loss (disorder)\Mixed conductive AND sensorineural hearing loss\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Oculootoradial syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Oculootoradial syndrome (disorder)
\Disease\Ear, nose and throat disorder\affection de l'oreille\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\Ear, nose and throat disorder\affection de l'oreille\Disorder of right ear (disorder)\Conductive hearing loss of right ear (disorder)\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\Ear, nose and throat disorder\affection de l'oreille\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\Ear, nose and throat disorder\affection de l'oreille\Disorder of left ear (disorder)\Conductive hearing loss of left ear\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\Ear, nose and throat disorder\affection de l'oreille\Conductive hearing loss (disorder)\Conductive hearing loss of left ear\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\Ear, nose and throat disorder\affection de l'oreille\Conductive hearing loss (disorder)\Conductive hearing loss of right ear (disorder)\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\Ear, nose and throat disorder\affection de l'oreille\Conductive hearing loss (disorder)\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Oculootoradial syndrome (disorder)
\Disease\Ear, nose and throat disorder\affection de l'oreille\Conductive hearing loss (disorder)\Mixed conductive AND sensorineural hearing loss\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Oculootoradial syndrome (disorder)
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Oculootoradial syndrome (disorder)
\Disease\affection de la tête\affection de l'oreille\Disorder of right ear (disorder)\Disorder of bilateral ears (disorder)\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection de la tête\affection de l'oreille\Disorder of right ear (disorder)\Conductive hearing loss of right ear (disorder)\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection de la tête\affection de l'oreille\Disorder of left ear (disorder)\Disorder of bilateral ears (disorder)\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection de la tête\affection de l'oreille\Disorder of left ear (disorder)\Conductive hearing loss of left ear\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection de la tête\affection de l'oreille\Conductive hearing loss (disorder)\Conductive hearing loss of left ear\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection de la tête\affection de l'oreille\Conductive hearing loss (disorder)\Conductive hearing loss of right ear (disorder)\Conductive hearing loss, bilateral (disorder)\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\affection de la tête\affection de l'oreille\Conductive hearing loss (disorder)\Mixed conductive AND sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Oculootoradial syndrome (disorder)
\Disease\affection de la tête\affection de l'oreille\Conductive hearing loss (disorder)\Mixed conductive AND sensorineural hearing loss\Mixed conductive and sensorineural hearing loss, bilateral (disorder)\Oculootoradial syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Oculootoradial syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Oculootoradial syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Oculootoradial syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Oculootoradial syndrome (disorder)
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Congenital mixed conductive and sensorineural hearing loss\Oculootoradial syndrome (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Oculootoradial syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Oculootoradial syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Oculootoradial syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Oculootoradial syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Oculootoradial syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculootoradial syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Oculootoradial syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Oculootoradial syndrome (disorder)	localisation d'une constatation (attribut)	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)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Oculootoradial syndrome (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Oculootoradial syndrome (disorder)	est un(e) (attribut)	Hearing loss associated with syndrome	true	Inferred relationship	Some
Oculootoradial syndrome (disorder)	a pour interprétation (attribut)	altéré	true	Inferred relationship	Some	3
Oculootoradial syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Oculootoradial syndrome (disorder)	est un(e) (attribut)	Mixed conductive and sensorineural hearing loss, bilateral (disorder)	true	Inferred relationship	Some
Oculootoradial syndrome (disorder)	est un(e) (attribut)	Congenital mixed conductive and sensorineural hearing loss	true	Inferred relationship	Some
Oculootoradial syndrome (disorder)	localisation d'une constatation (attribut)	Left ear	true	Inferred relationship	Some	4
Oculootoradial syndrome (disorder)	localisation d'une constatation (attribut)	oreille droite (structure corporelle)	true	Inferred relationship	Some	2
Oculootoradial syndrome (disorder)	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Oculootoradial syndrome (disorder)	est un(e) (attribut)	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Oculootoradial syndrome (disorder)	est un(e) (attribut)	Congenital anomaly of upper limb	true	Inferred relationship	Some
Oculootoradial syndrome (disorder)	est un(e) (attribut)	Congenital hearing disorder	false	Inferred relationship	Some
Oculootoradial syndrome (disorder)	est un(e) (attribut)	Dysostosis	true	Inferred relationship	Some
Oculootoradial syndrome (disorder)	est un(e) (attribut)	Finding of bone of upper limb	true	Inferred relationship	Some
Oculootoradial syndrome (disorder)	est un(e) (attribut)	Auditory system hereditary disorder	true	Inferred relationship	Some
Oculootoradial syndrome (disorder)	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Oculootoradial syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Oculootoradial syndrome (disorder)	localisation d'une constatation (attribut)	structure du système auditif	false	Inferred relationship	Some	2
Oculootoradial syndrome (disorder)	interprète (attribut)	Hearing, function (observable entity)	true	Inferred relationship	Some	3
Oculootoradial syndrome (disorder)	interprète (attribut)	entité observable fonctionnelle	false	Inferred relationship	Some
Oculootoradial syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	4
Oculootoradial syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	4
Oculootoradial syndrome (disorder)	localisation d'une constatation (attribut)	Bone structure of upper limb (body structure)	false	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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