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Terminology chevron_right Concepts chevron_right 700056005

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700056005
The component that hold information about this concept.
Mosaic variegated aneuploidy syndrome (disorder)
Mosaic variegated aneuploidy 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

Mosaic variegated aneuploidy syndrome (disorder)

SCTID: 700056005, Primitive, Active


700056005|Mosaic variegated aneuploidy syndrome (disorder)|
  • en Mosaic variegated aneuploidy syndrome
  • en Mosaic variegated aneuploidy syndrome (disorder)

700056005 |Mosaic variegated aneuploidy syndrome (disorder)|

<<< 74345006 |Congenital disorder due to abnormality of chromosome number or structure (disorder)| +
    699346009 |Hereditary cancer-predisposing syndrome (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 312237004 |Chromosome structure (cell structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

2988912015 - Mosaic variegated aneuploidy syndrome (en) View

2988912015
en
Synonym (core metadata concept)
Mosaic variegated aneuploidy syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

2988907016 - Mosaic variegated aneuploidy syndrome (disorder) (en) View

2988907016
en
Fully specified name (core metadata concept)
Mosaic variegated aneuploidy syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (4799228028) - 700056005 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (4799229020) - 700056005 -> 107656002 (116676008) View

116676008 |Associated morphology (attribute)|
107656002 |Congenital anomaly (morphologic abnormality)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (5007633029) - 700056005 -> 255399007 (246454002) View

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

Relationship (5007634024) - 700056005 -> 49755003 (116676008) View

116676008 |Associated morphology (attribute)|
49755003 |Morphologically abnormal structure (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (5007635020) - 700056005 -> 312237004 (363698007) View

363698007 |Finding site (attribute)|
312237004 |Chromosome structure (cell structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (4799226029) - 700056005 -> 74345006 (116680003) View

116680003 |Is a (attribute)|
74345006 |Congenital disorder due to abnormality of chromosome number or structure (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (4799227022) - 700056005 -> 699346009 (116680003) View

116680003 |Is a (attribute)|
699346009 |Hereditary cancer-predisposing syndrome (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

74345006 View

74345006
Congenital disorder due to abnormality of chromosome number or structure (disorder)
Chromosomopathy
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

699346009 View

699346009
Hereditary cancer-predisposing syndrome (disorder)
Hereditary neoplastic syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (30c75ee6-2729-5ab7-9974-5b85a340ac31) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q99.8
TRUE
ALWAYS Q99.8
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