763597000 | View Concept | SNOMED CT

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3642974017 - Hereditary ataxia (en) View
3642974017	en	Synonym (core metadata concept)	Hereditary ataxia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3642973011 - Hereditary ataxia (disorder) (en) View
3642973011	en	Fully specified name (core metadata concept)	Hereditary ataxia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9142306022) - 763597000 -> 32895009 (116680003) View
116680003 \|Is a (attribute)\|	32895009 \|Hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13617256022) - 763597000 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13617257029) - 763597000 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9142305021) - 763597000 -> 20262006 (116680003) View
116680003 \|Is a (attribute)\|	20262006 \|Ataxia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
20262006 View
20262006	Ataxia (finding)	Ataxia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
718221007 View
718221007	Behr syndrome (disorder)	Behr syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1303586006 View
1303586006	Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome (disorder)	Cerebellar ataxia, brain abnormalities, cardiac conduction defects syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1300130001 View
1300130001	Hypomyelination of early myelinating structures (disorder)	Hypomyelination of early myelinating structures	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1260450002 View
1260450002	Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)	Infantile multisystem neurologic, endocrine, pancreatic disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1255271005 View
1255271005	Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder)	Type 1 diabetes mellitus, central and peripheral neurodegeneration syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1255323007 View
1255323007	Spastic ataxia, dysarthria due to glutaminase deficiency (disorder)	Spastic ataxia, dysarthria due to glutaminase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1237413006 View
1237413006	Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder)	Lichtenstein knorr syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1237514002 View
1237514002	Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome (disorder)	Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1237625002 View
1237625002	Autosomal recessive cerebellar ataxia due to cwf19 like cell cycle control factor 1 deficiency (disorder)	Scar17 - spinocerebellar ataxia autosomal recessive type 17	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1236804009 View
1236804009	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder)	Cerebellar ataxia with bilateral vestibulopathy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1222655009 View
1222655009	Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)	Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1217230002 View
1217230002	Cerebellar ataxia with oculomotor apraxia type 4 (disorder)	Aoa4 - ataxia, oculomotor apraxia type 4	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1217379007 View
1217379007	Nk6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder)	Spax8 - spastic ataxia 8	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1208339007 View
1208339007	Neuhauser eichner opitz syndrome (disorder)	Neuhauser eichner opitz syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1177169004 View
1177169004	Congenital cerebellar ataxia due to rna, u12 small nuclear mutation (disorder)	Congenital cerebellar ataxia due to rnu12 mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1156796002 View
1156796002	Autosomal dominant cerebellar ataxia type 2 (disorder)	Autosomal dominant cerebellar ataxia type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
827172005 View
827172005	X-linked progressive cerebellar ataxia (disorder)	X-linked progressive cerebellar ataxia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
782690007 View
782690007	Gemignani syndrome (disorder)	Gemignani syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
782696001 View
782696001	Recessive mitochondrial ataxia syndrome (disorder)	Recessive mitochondrial ataxia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
782753000 View
782753000	Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome (disorder)	Autosomal recessive spinocerebellar ataxia type 20	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783203003 View
783203003	Ataxia with tapetoretinal degeneration syndrome (disorder)	Ataxia with tapetoretinal degeneration syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
784343003 View
784343003	Autosomal recessive spastic ataxia with leukoencephalopathy (disorder)	Autosomal recessive spastic ataxia type 3	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
784347002 View
784347002	Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome (disorder)	Autosomal recessive spastic ataxia type 4	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
784380009 View
784380009	Autosomal dominant spastic ataxia type 1 (disorder)	Autosomal dominant spastic ataxia type 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
785300001 View
785300001	Infantile-onset autosomal recessive non progressive cerebellar ataxia (disorder)	Autosomal recessive spinocerebellar ataxia type 6	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
787174003 View
787174003	Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder)	Intellectual disability, hyperkinetic movement, truncal ataxia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770898002 View
770898002	Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to ww domain containing oxidoreductase deficiency (disorder)	Autosomal recessive spinocerebellar ataxia type 12	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771514002 View
771514002	Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)	Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773492007 View
773492007	Childhood-onset spasticity with hyperglycinemia (disorder)	Spasticity, ataxia, gait anomalies syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773498006 View
773498006	Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to tud deficiency (disorder)	Spinocerebellar ataxia autosomal recessive type 23	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763312008 View
763312008	Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome (disorder)	Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763344007 View
763344007	Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder)	Poretti boltshauser syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763348005 View
763348005	Autosomal recessive cerebellar ataxia with late-onset spasticity (disorder)	Autosomal recessive cerebellar ataxia with late-onset spasticity	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763351003 View
763351003	Spectrin-associated autosomal recessive cerebellar ataxia (disorder)	Autosomal recessive spinocerebellar ataxia type 14	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763669001 View
763669001	Spastic ataxia with congenital miosis (disorder)	Spastic ataxia with congenital miosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
764095005 View
764095005	Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Ataxia, delayed dentition, hypomyelination syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766814006 View
766814006	Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome (disorder)	Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
766818009 View
766818009	X-linked non progressive cerebellar ataxia (disorder)	X-linked spinocerebellar ataxia type 5	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
768556005 View
768556005	Ataxia pancytopenia syndrome (disorder)	Myelocerebellar disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
768663003 View
768663003	Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder)	Leucoencephalopathy with ataxia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723441001 View
723441001	Non-progressive cerebellar ataxia with intellectual disability (disorder)	Non-progressive cerebellar ataxia with intellectual disability	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724065003 View
724065003	Autosomal recessive posterior column ataxia and retinitis pigmentosa (disorder)	Posterior column ataxia with retinitis pigmentosa syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724283004 View
724283004	Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)	H-abc - hypomyelination, atrophy of basal ganglia and cerebellum	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724769002 View
724769002	Ataxia co-occurrent and due to phytanic acid storage disease (disorder)	Ataxia with refsum disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
724770001 View
724770001	Ataxia co-occurrent and due to abetalipoproteinemia (disorder)	Ataxia with abetalipoproteinemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
725394006 View
725394006	Autosomal recessive ataxia due to ubiquinone deficiency (disorder)	Autosomal recessive spinocerebellar ataxia type 9	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
725408001 View
725408001	Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder)	Aoa2 - ataxia oculomotor apraxia type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
725433003 View
725433003	Autosomal recessive cerebellar ataxia beauce type (disorder)	Autosomal recessive cerebellar ataxia beauce type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
726031001 View
726031001	Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Camos syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733065003 View
733065003	Myoclonus, cerebellar ataxia, deafness syndrome (disorder)	Myoclonus, cerebellar ataxia, deafness syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718845002 View
718845002	X-linked intellectual disability with ataxia and apraxia syndrome (disorder)	X-linked intellectual disability with ataxia and apraxia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718849008 View
718849008	X-linked neurodegenerative syndrome bertini type (disorder)	X-linked neurodegenerative syndrome bertini type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719102004 View
719102004	Congenital cataract with ataxia and deafness syndrome (disorder)	Congenital cataract with ataxia and deafness syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720517001 View
720517001	Ataxia with deafness and intellectual disability syndrome (disorder)	Reardon baraitser syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720634003 View
720634003	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721207002 View
721207002	Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)	Sesame syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721846006 View
721846006	Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)	4h syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722064003 View
722064003	Odontoleukodystrophy (disorder)	Odontoleukodystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722293005 View
722293005	Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715366004 View
715366004	Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder)	Ataxia oculomotor apraxia type 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715371006 View
715371006	Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)	Cerebellar ataxia and ectodermal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715776003 View
715776003	Spastic paraplegia type 7 (disorder)	Spastic paraplegia type 7	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715984007 View
715984007	Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Boucher neuhäuser syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
717266001 View
717266001	Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder)	Sando (sensory ataxic neuropathy dysarthria ophthalmoparesis) syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
717332007 View
717332007	Cerebellar ataxia cayman type (disorder)	Cayman ataxia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
702354007 View
702354007	X-linked intellectual developmental disorder christianson type (disorder)	Christianson syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
702441001 View
702441001	Fatal x-linked ataxia with deafness and loss of vision (disorder)	Arts syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
702445005 View
702445005	Autosomal recessive spastic ataxia of charlevoix-saguenay (disorder)	Spastic ataxia of charlevoix-saguenay	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
448045004 View
448045004	Fragile x associated tremor ataxia syndrome (disorder)	Fragile x associated tremor ataxia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
447351004 View
447351004	Vanishing white matter disease (disorder)	Myelinosis centralis diffusa	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
421455009 View
421455009	Episodic ataxia (disorder)	Episodic ataxia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
10394003 View
10394003	Friedreich ataxia (disorder)	Familial ataxia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
68116008 View
68116008	Dentatorubropallidoluysian degeneration (disorder)	Haw river syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
80734006 View
80734006	Marinesco-sjögren syndrome (disorder)	Marinesco-sjogren syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
129609000 View
129609000	Spinocerebellar ataxia (disorder)	Spinocerebellar ataxia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
193165008 View
193165008	Neuropathy in association with hereditary ataxia (disorder)	Neuropathy in association with hereditary ataxia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230240004 View
230240004	Progressive cerebellar ataxia with hypogonadism (disorder)	Gordon holmes syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
230782004 View
230782004	Dysequilibrium syndrome (disorder)	Camrq syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237611007 View
237611007	Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus (disorder)	Furukawa takagi nakao syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237984008 View
237984008	Neurogenic muscle weakness, ataxia and retinitis pigmentosa (disorder)	Narp syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254092004 View
254092004	Saldino-mainzer dysplasia (disorder)	Conorenal syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

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ExtendedMap object (6b7d90eb-8f42-5f85-a72a-2a066d0e5f91) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G11.9	TRUE	ALWAYS G11.9	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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