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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of lower 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
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Finding of limb structure\Disorder of extremity\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
• \Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Toe finding\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Disorder of foot\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Finding of limb structure\Finding of lower limb\Finding of ankle or foot\Finding of foot region\Disorder of foot\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower 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
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Finding of head region\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Finding of head region\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\...
• \Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Eye / vision finding\Globe finding\Retina finding\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Functional finding\Communication disorder\Speech and language disorder\Aphonia\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Speech finding\Speech and language finding\Communication, speech and language finding\Communication disorder\Speech and language disorder\Aphonia\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Communication disorder\Speech and language disorder\Aphonia\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Disorder of extremity\Disorder of digit\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Congenital anomaly of foot\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Disorder of toe\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Disorder of extremity\Disorder of lower 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
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Disorder of extremity\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
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\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
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Congenital disease\Congenital anomaly\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
• \Disease\Congenital disease\Congenital hearing disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\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
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of toe\Perodactylia of great toe\Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital anomaly\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

Status: current, Primitive. 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	Active	Case insensitive	SNOMED CT core
3724289010	Aphonia, deafness, retinal dystrophy, duplicated halluces, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3724290018	Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3724291019	Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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