702441001: Fatal X-linked ataxia with deafness and loss of vision (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Lethal ataxia-deafness-optic atrophy
• \Finding related to coordination / incoordination\Ataxia\Hereditary ataxia\Lethal ataxia-deafness-optic atrophy
• \Central nervous system finding\Disorder of the central nervous system\...
• \Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Lethal ataxia-deafness-optic atrophy
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Lethal ataxia-deafness-optic atrophy
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Lethal ataxia-deafness-optic atrophy
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Lethal ataxia-deafness-optic atrophy
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Lethal ataxia-deafness-optic atrophy
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Lethal ataxia-deafness-optic atrophy
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Lethal ataxia-deafness-optic atrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Lethal ataxia-deafness-optic atrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Lethal ataxia-deafness-optic atrophy
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lethal ataxia-deafness-optic atrophy
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Lethal ataxia-deafness-optic atrophy
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Lethal ataxia-deafness-optic atrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Lethal ataxia-deafness-optic atrophy
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Lethal ataxia-deafness-optic atrophy
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Lethal ataxia-deafness-optic atrophy
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Lethal ataxia-deafness-optic atrophy
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Lethal ataxia-deafness-optic atrophy
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Lethal ataxia-deafness-optic atrophy
• \Disease\Developmental disorder\Developmental hereditary disorder\Lethal ataxia-deafness-optic atrophy

Status: current, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2995163018	Lethal ataxia-deafness-optic atrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
2995374018	Arts syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3776946018	Fatal X-linked ataxia with deafness and loss of vision (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3776947010	Fatal X-linked ataxia with deafness and loss of vision	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3776948017	Syndrome with characteristics of intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. Other manifestations included floppiness, susceptibility to infections and later flaccid tetraplegia and areflexia. It is caused by missense mutations in the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1) localized to Xq22.1-q24, leading to impaired purine biosynthesis. Transmitted as an X-linked recessive trait. The disease has a fatal course during childhood (the majority of patients die before the age of 5 years) due to the high susceptibility of the patients to infections, especially of the upper respiratory tract.	en	Definition	Active	Case sensitive	SNOMED CT core
3777438018	Syndrome with characteristics of intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. Other manifestations included floppiness, susceptibility to infections and later flaccid tetraplegia and areflexia. It is caused by missense mutations in the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1) localised to Xq22.1-q24, leading to impaired purine biosynthesis. Transmitted as an X-linked recessive trait. The disease has a fatal course during childhood (the majority of patients die before the age of 5 years) due to the high susceptibility of the patients to infections, especially of the upper respiratory tract.	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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