Loading...
dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 763348005

Production
add
763348005
The component that hold information about this concept.
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)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Autosomal recessive cerebellar ataxia with late-onset spasticity (disorder)

SCTID: 763348005, Primitive, Active


763348005|Autosomal recessive cerebellar ataxia with late-onset spasticity (disorder)|
  • en Autosomal recessive cerebellar ataxia due to gba2 (glucosylceramidase beta 2) deficiency
  • en Autosomal recessive cerebellar ataxia with late-onset spasticity
  • en Autosomal recessive cerebellar ataxia with late-onset spasticity (disorder)

763348005 |Autosomal recessive cerebellar ataxia with late-onset spasticity (disorder)|

<<< 128190004 |Inherited metabolic disorder of nervous system (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    238028008 |Sphingolipidosis (disorder)| +
    85102008 |Cerebellar ataxia (disorder)| +
    763597000 |Hereditary ataxia (disorder)| :
        { 363698007 |Finding site (attribute)| = 113305005 |Cerebellar structure (body structure)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

3638642017 - Autosomal recessive cerebellar ataxia due to GBA2 (glucosylceramidase beta 2) deficiency (en) View

3638642017
en
Synonym (core metadata concept)
Autosomal recessive cerebellar ataxia due to GBA2 (glucosylceramidase beta 2) deficiency
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

3638643010 - Autosomal recessive cerebellar ataxia with late-onset spasticity (en) View

3638643010
en
Synonym (core metadata concept)
Autosomal recessive cerebellar ataxia with late-onset spasticity
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3638644016 - Autosomal recessive cerebellar ataxia with late-onset spasticity (disorder) (en) View

3638644016
en
Fully specified name (core metadata concept)
Autosomal recessive cerebellar ataxia with late-onset spasticity (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (15686668020) - 763348005 -> 128190004 (116680003) View

116680003 |Is a (attribute)|
128190004 |Inherited metabolic disorder of nervous system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15686669028) - 763348005 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9091959028) - 763348005 -> 363235000 (116680003) View

116680003 |Is a (attribute)|
363235000 |Hereditary disorder of nervous system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (9091960022) - 763348005 -> 113305005 (363698007) View

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

Relationship (9091956024) - 763348005 -> 85102008 (116680003) View

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

Relationship (9091957026) - 763348005 -> 85995004 (116680003) View

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

Relationship (9091958020) - 763348005 -> 238028008 (116680003) View

116680003 |Is a (attribute)|
238028008 |Sphingolipidosis (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (9142277027) - 763348005 -> 763597000 (116680003) View

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

128190004 View

128190004
Inherited metabolic disorder of nervous system (disorder)
Inherited metabolic disorder of nervous system
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

85995004 View

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

238028008 View

238028008
Sphingolipidosis (disorder)
Sphingolipidosis
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (3e4d1ebb-ac33-5f25-b82d-d21d2ffc30cb) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
G11.8
TRUE
ALWAYS G11.8 | 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