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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2995163018	Lethal ataxia-deafness-optic atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995374018	Arts syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3776946018	Fatal X-linked ataxia with deafness and loss of vision (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3776947010	Fatal X-linked ataxia with deafness and loss of vision	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995163018	Lethal ataxia-deafness-optic atrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995163018	Lethal ataxia-deafness-optic atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995319018	Fatal x-linked ataxia with deafness and loss of vision (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995319018	Fatal x-linked ataxia with deafness and loss of vision (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995374018	Arts syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995639010	Fatal x-linked ataxia with deafness and loss of vision	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2995639010	Fatal x-linked ataxia with deafness and loss of vision	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3776946018	Fatal X-linked ataxia with deafness and loss of vision (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3776947010	Fatal X-linked ataxia with deafness and loss of vision	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
519071000274118	Arts-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3416021001000119	Letale Ataxie mit Schwerhörigkeit und Optikusatrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6217551000241116	syndrome d'ataxie, surdité, atrophie optique et létalité lié à l'X	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6217561000241118	syndrome d'Arts	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6217571000241114	syndrome d'ataxie, surdité, atrophie optique et létalité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6217551000241116	syndrome d'ataxie, surdité, atrophie optique et létalité lié à l'X	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6217561000241118	syndrome d'Arts	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6217571000241114	syndrome d'ataxie, surdité, atrophie optique et létalité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
519071000274118	Arts-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3416021001000119	Letale Ataxie mit Schwerhörigkeit und Optikusatrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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