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Terminology chevron_right Concepts chevron_right 716997004

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  • Language with ID “3eae0b8d-dcbe-577d-8248-e47340819a65” doesn’t exist. Perhaps it was deleted?
716997004
The component that hold information about this concept.
Joubert syndrome (disorder)
Joubert syndrome
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

Joubert syndrome (disorder)

SCTID: 716997004, Primitive, Active


716997004|Joubert syndrome (disorder)|
  • en Joubert syndrome
  • en Joubert syndrome (disorder)

716997004 |Joubert syndrome (disorder)|

<<< 85995004 |Autosomal recessive hereditary disorder (disorder)| +
    253175003 |Familial aplasia of the vermis (disorder)| +
    363235000 |Hereditary disorder of nervous system (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 45486003 |Aplasia (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 58501004 |Cerebellar vermis structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
Active

3308128016 - Joubert syndrome (en) View

3308128016
en
Synonym (core metadata concept)
Joubert syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

3308127014 - Joubert syndrome (disorder) (en) View

3308127014
en
Fully specified name (core metadata concept)
Joubert syndrome (disorder)
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

Relationship (13069654026) - 716997004 -> 363070008 (116680003) View

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

Relationship (10529667029) - 716997004 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6594807025) - 716997004 -> 85995004 (116680003) View

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

Relationship (6594808024) - 716997004 -> 253175003 (116680003) View

116680003 |Is a (attribute)|
253175003 |Familial aplasia of the vermis (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6594809027) - 716997004 -> 363235000 (116680003) View

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

Relationship (6594810021) - 716997004 -> 45486003 (116676008) View

116676008 |Associated morphology (attribute)|
45486003 |Aplasia (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6594811020) - 716997004 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6594812029) - 716997004 -> 58501004 (363698007) View

363698007 |Finding site (attribute)|
58501004 |Cerebellar vermis structure (body structure)|
1
900000000000011006 |Inferred relationship (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

85995004 View

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

253175003 View

253175003
Familial aplasia of the vermis (disorder)
Joubert syndrome
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

733418003 View

733418003
Joubert syndrome with jeune asphyxiating thoracic dystrophy (disorder)
Joubert syndrome with jeune asphyxiating thoracic dystrophy
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

721847002 View

721847002
Joubert syndrome with congenital hepatic fibrosis (disorder)
Coach syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

721862000 View

721862000
Joubert syndrome with oculorenal defect (disorder)
Arima syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

721873007 View

721873007
Joubert syndrome with orofaciodigital defect (disorder)
Varadi syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

716998009 View

716998009
Joubert syndrome with ocular defect (disorder)
Joubert syndrome with retinopathy
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

716999001 View

716999001
Joubert syndrome with renal defect (disorder)
Joubert syndrome with renal defect
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (a67dc1d6-bd13-5425-ba97-a20e80999700) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q04.3
TRUE
ALWAYS Q04.3
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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