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Terminology chevron_right Concepts chevron_right 770898002

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770898002
The component that hold information about this concept.
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)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to ww domain containing oxidoreductase deficiency (disorder)

SCTID: 770898002, Primitive, Active


770898002|Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to ww domain containing oxidoreductase deficiency (disorder)|
  • en Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to ww domain containing oxidoreductase deficiency
  • en Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to ww domain containing oxidoreductase deficiency (disorder)
  • en Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to wwox deficiency
  • en Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to wwox (ww domain containing oxidoreductase) deficiency
  • en Autosomal recessive spinocerebellar ataxia type 12

770898002 |Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to ww domain containing oxidoreductase deficiency (disorder)|

<<< 85102008 |Cerebellar ataxia (disorder)| +
    60750009 |Third cranial nerve disease (disorder)| +
    363343008 |Hereditary disorder of the visual system (disorder)| +
    106153001 |Third cranial nerve finding (finding)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    763597000 |Hereditary ataxia (disorder)| +
    37650008 |Hereditary cerebellar degeneration (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    84757009 |Epilepsy (disorder)| +
    1362108000 |Genetic intellectual disability (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 107669003 |Degenerative abnormality (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 113305005 |Cerebellar structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 56193007 |Oculomotor nerve structure (body structure)| }
        { 370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
          363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
          363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
Active

3703331019 - Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (en) View

3703331019
en
Synonym (core metadata concept)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3703329011 - Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) (en) View

3703329011
en
Fully specified name (core metadata concept)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

3703330018 - Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency (en) View

3703330018
en
Synonym (core metadata concept)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

3703327013 - Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX (WW domain containing oxidoreductase) deficiency (en) View

3703327013
en
Synonym (core metadata concept)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX (WW domain containing oxidoreductase) deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3703328015 - Autosomal recessive spinocerebellar ataxia type 12 (en) View

3703328015
en
Synonym (core metadata concept)
Autosomal recessive spinocerebellar ataxia type 12
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

Relationship (9641348024) - 770898002 -> 110359009 (116680003) View

116680003 |Is a (attribute)|
110359009 |Intellectual disability|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (16316604026) - 770898002 -> 1362108000 (116680003) View

116680003 |Is a (attribute)|
1362108000 |Genetic intellectual disability (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9641339025) - 770898002 -> 65120008 (116680003) View

116680003 |Is a (attribute)|
65120008 |Generalized convulsive epilepsy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (9641342020) - 770898002 -> 83678007 (363698007) View

363698007 |Finding site (attribute)|
83678007 |Cerebral structure (body structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (15609667028) - 770898002 -> 84757009 (116680003) View

116680003 |Is a (attribute)|
84757009 |Epilepsy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15094642023) - 770898002 -> 247573007 (363714003) View

363714003 |Interprets (attribute)|
247573007 |Intellectual ability (observable entity)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15094643029) - 770898002 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15096007020) - 770898002 -> 406208005 (363714003) View

363714003 |Interprets (attribute)|
406208005 |Adaptation behavior (observable entity)|
6
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15096008026) - 770898002 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
6
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13069865022) - 770898002 -> 363070008 (116680003) View

116680003 |Is a (attribute)|
363070008 |Developmental hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9641338022) - 770898002 -> 33359002 (116676008) View

116676008 |Associated morphology (attribute)|
33359002 |Degeneration (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (12094927023) - 770898002 -> 107669003 (116676008) View

116676008 |Associated morphology (attribute)|
107669003 |Degenerative abnormality (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9641347025) - 770898002 -> 56193007 (363698007) View

363698007 |Finding site (attribute)|
56193007 |Oculomotor nerve structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11571325023) - 770898002 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9641336021) - 770898002 -> 85102008 (116680003) View

116680003 |Is a (attribute)|
85102008 |Cerebellar ataxia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9641337028) - 770898002 -> 60750009 (116680003) View

116680003 |Is a (attribute)|
60750009 |Third cranial nerve disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9641340028) - 770898002 -> 363343008 (116680003) View

116680003 |Is a (attribute)|
363343008 |Hereditary disorder of the visual system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9641341029) - 770898002 -> 113305005 (363698007) View

363698007 |Finding site (attribute)|
113305005 |Cerebellar structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9641343026) - 770898002 -> 106153001 (116680003) View

116680003 |Is a (attribute)|
106153001 |Third cranial nerve finding (finding)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9641344021) - 770898002 -> 85995004 (116680003) View

116680003 |Is a (attribute)|
85995004 |Autosomal recessive hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9641345022) - 770898002 -> 763597000 (116680003) View

116680003 |Is a (attribute)|
763597000 |Hereditary ataxia (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9641346023) - 770898002 -> 37650008 (116680003) View

116680003 |Is a (attribute)|
37650008 |Hereditary cerebellar degeneration (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

1362108000 View

1362108000
Genetic intellectual disability (disorder)
Genetic intellectual disability
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

363070008 View

363070008
Developmental hereditary disorder (disorder)
Developmental hereditary disorder
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

85102008 View

85102008
Cerebellar ataxia (disorder)
Cerebellar ataxia
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

763597000 View

763597000
Hereditary ataxia (disorder)
Hereditary ataxia
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

106153001 View

106153001
Third cranial nerve finding (finding)
Oculomotor nerve finding
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

37650008 View

37650008
Hereditary cerebellar degeneration (disorder)
Hereditary cerebellar degeneration
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

60750009 View

60750009
Third cranial nerve disease (disorder)
Oculomotor nerve disease
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

84757009 View

84757009
Epilepsy (disorder)
Epilepsy
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

85995004 View

85995004
Autosomal recessive hereditary disorder (disorder)
Hereditary disorder trait, nos
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

363343008 View

363343008
Hereditary disorder of the visual system (disorder)
Hereditary disorder of the visual system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (77c89ee7-aed9-5bde-a4b0-ffb498787fbe) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
G11.1
TRUE
ALWAYS G11.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
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)|
esc