773583007: Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Toe finding (finding)\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\...
• \Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\Congenital hearing disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation fonctionnelle\trouble de communication\Speech and language disorder\Aphonia (disorder)\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \constatation à propos de la parole\Speech and language finding\constatation à propos de la communication, de l'élocution et du langage\trouble de communication\Speech and language disorder\Aphonia (disorder)\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\affection dégénérative\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\Congenital hearing disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\trouble de communication\Speech and language disorder\Aphonia (disorder)\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital hearing disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability 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\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3724288019	Aphonia, hearing loss, retinal dystrophy, duplicated halluces, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724289010	Aphonia, deafness, retinal dystrophy, duplicated halluces, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724290018	Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724291019	Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3724034015	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (including thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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