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Terminology chevron_right Concepts chevron_right 716709002

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716709002
The component that hold information about this concept.
Fraxe intellectual disability syndrome (disorder)
Fraxe intellectual disability 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

Fraxe intellectual disability syndrome (disorder)

SCTID: 716709002, Primitive, Active


716709002|Fraxe intellectual disability syndrome (disorder)|
  • en Fraxe intellectual disability syndrome
  • en Fraxe intellectual disability syndrome (disorder)
  • en Intellectual disability associated with fragile site fraxe

716709002 |Fraxe intellectual disability syndrome (disorder)|

<<< 1362108000 |Genetic intellectual disability (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    276654001 |Congenital malformation (disorder)| +
    1162976004 |X-linked recessive hereditary disease (disorder)| +
    205720009 |Fragile x chromosome (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 107675007 |Chromosomal morphology (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 72837006 |Sex chromosome x (cell structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          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

3307280017 - FRAXE intellectual disability syndrome (en) View

3307280017
en
Synonym (core metadata concept)
FRAXE intellectual disability syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

3307279015 - FRAXE intellectual disability syndrome (disorder) (en) View

3307279015
en
Fully specified name (core metadata concept)
FRAXE intellectual disability syndrome (disorder)
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

3307281018 - Intellectual disability associated with fragile site FRAXE (en) View

3307281018
en
Synonym (core metadata concept)
Intellectual disability associated with fragile site FRAXE
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

Relationship (9127810028) - 716709002 -> 110359009 (116680003) View

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

Relationship (16316833028) - 716709002 -> 1362108000 (116680003) View

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

Relationship (15095225026) - 716709002 -> 247573007 (363714003) View

363714003 |Interprets (attribute)|
247573007 |Intellectual ability (observable entity)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15095226025) - 716709002 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15096589026) - 716709002 -> 406208005 (363714003) View

363714003 |Interprets (attribute)|
406208005 |Adaptation behavior (observable entity)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15096590024) - 716709002 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6594771020) - 716709002 -> 128430005 (116680003) View

116680003 |Is a (attribute)|
128430005 |X-linked hereditary disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (14011019029) - 716709002 -> 1162976004 (116680003) View

116680003 |Is a (attribute)|
1162976004 |X-linked recessive hereditary disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (11572668028) - 716709002 -> 308490002 (370135005) View

370135005 |Pathological process (attribute)|
308490002 |Pathological developmental process (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (13796736020) - 716709002 -> 308490002 (370135005) View

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

Relationship (13796737027) - 716709002 -> 276654001 (116680003) View

116680003 |Is a (attribute)|
276654001 |Congenital malformation (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13069649024) - 716709002 -> 363070008 (116680003) View

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

Relationship (6594770021) - 716709002 -> 91138005 (116680003) View

116680003 |Is a (attribute)|
91138005 |Mental retardation (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6594772029) - 716709002 -> 205720009 (116680003) View

116680003 |Is a (attribute)|
205720009 |Fragile x chromosome (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6594773023) - 716709002 -> 107675007 (116676008) View

116676008 |Associated morphology (attribute)|
107675007 |Chromosomal morphology (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6594774028) - 716709002 -> 255399007 (246454002) View

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

Relationship (6594775027) - 716709002 -> 72837006 (363698007) View

363698007 |Finding site (attribute)|
72837006 |Sex chromosome x (cell structure)|
1
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

1162976004 View

1162976004
X-linked recessive hereditary disease (disorder)
X-linked recessive hereditary disease
900000000000074008 |Necessary but not sufficient concept 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

276654001 View

276654001
Congenital malformation (disorder)
Dị tật bẩm sinh
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

205720009 View

205720009
Fragile x chromosome (disorder)
Fragile x chromosome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (263c896c-af3f-51ac-8985-ca1892d110f1) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q99.2
TRUE
ALWAYS Q99.2 | 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)|
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