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Terminology chevron_right Concepts chevron_right 716999001

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716999001
The component that hold information about this concept.
Joubert syndrome with renal defect (disorder)
Joubert syndrome with renal defect
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 with renal defect (disorder)

SCTID: 716999001, Primitive, Active


716999001|Joubert syndrome with renal defect (disorder)|
  • en Joubert syndrome with renal defect
  • en Joubert syndrome with renal defect (disorder)

716999001 |Joubert syndrome with renal defect (disorder)|

<<< 716997004 |Joubert syndrome (disorder)| +
    367591000119105 |Hereditary nephropathy (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)| }
        { 363698007 |Finding site (attribute)| = 64033007 |Kidney structure (body structure)| }
Active

3308139018 - Joubert syndrome with renal defect (en) View

3308139018
en
Synonym (core metadata concept)
Joubert syndrome with renal defect
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

3308138014 - Joubert syndrome with renal defect (disorder) (en) View

3308138014
en
Fully specified name (core metadata concept)
Joubert syndrome with renal defect (disorder)
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

Relationship (6594822024) - 716999001 -> 64033007 (363698007) View

363698007 |Finding site (attribute)|
64033007 |Kidney structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6594823025) - 716999001 -> 45486003 (116676008) View

116676008 |Associated morphology (attribute)|
45486003 |Aplasia (morphologic abnormality)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6594824020) - 716999001 -> 255399007 (246454002) View

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

Relationship (6594825021) - 716999001 -> 58501004 (363698007) View

363698007 |Finding site (attribute)|
58501004 |Cerebellar vermis structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (10530967029) - 716999001 -> 255399007 (246454002) View

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

Relationship (10530968023) - 716999001 -> 308490002 (370135005) View

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

Relationship (10530969026) - 716999001 -> 45486003 (116676008) View

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

Relationship (10530970025) - 716999001 -> 58501004 (363698007) View

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

Relationship (6594820027) - 716999001 -> 716997004 (116680003) View

116680003 |Is a (attribute)|
716997004 |Joubert syndrome (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6594821028) - 716999001 -> 367591000119105 (116680003) View

116680003 |Is a (attribute)|
367591000119105 |Hereditary nephropathy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

716997004 View

716997004
Joubert syndrome (disorder)
Joubert syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

367591000119105 View

367591000119105
Hereditary nephropathy (disorder)
Hereditary nephropathy
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True
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