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Terminology chevron_right Concepts chevron_right 45582004

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45582004
The component that hold information about this concept.
Rubinstein-taybi syndrome (disorder)
Rubinstein-taybi 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

Rubinstein-taybi syndrome (disorder)

SCTID: 45582004, Primitive, Active


45582004|Rubinstein-taybi syndrome (disorder)|
  • en Rubinstein-taybi syndrome (disorder)
  • en Rubinstein-taybi syndrome

45582004 |Rubinstein-taybi syndrome (disorder)|

<<< 41483000 |Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)| +
    699346009 |Hereditary cancer-predisposing syndrome (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
Active

782837014 - Rubinstein-Taybi syndrome (disorder) (en) View

782837014
en
Fully specified name (core metadata concept)
Rubinstein-Taybi syndrome (disorder)
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

76004014 - Rubinstein-Taybi syndrome (en) View

76004014
en
Synonym (core metadata concept)
Rubinstein-Taybi syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

Relationship (13068962026) - 45582004 -> 363070008 (116680003) View

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

Relationship (13280421021) - 45582004 -> 271603002 (363714003) View

363714003 |Interprets (attribute)|
271603002 |Height / growth measure (observable entity)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (5020496024) - 45582004 -> 21390004 (116676008) View

116676008 |Associated morphology (attribute)|
21390004 |Developmental anomaly (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (10516785029) - 45582004 -> 308490002 (370135005) View

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

Relationship (10516786028) - 45582004 -> 49755003 (116676008) View

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

Relationship (785817025) - 45582004 -> 255399007 (246454002) View

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

Relationship (2267214022) - 45582004 -> 112635002 (116676008) View

116676008 |Associated morphology (attribute)|
112635002 |Congenital malformation (morphologic abnormality)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (4997016022) - 45582004 -> 255399007 (246454002) View

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

Relationship (4799078024) - 45582004 -> 699346009 (116680003) View

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

Relationship (222250028) - 45582004 -> 312573007 (116680003) View

116680003 |Is a (attribute)|
312573007 |Multisystem disorder q-r (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (222251029) - 45582004 -> 41483000 (116680003) View

116680003 |Is a (attribute)|
41483000 |Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)|
0
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

699346009 View

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

41483000 View

41483000
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)
Multiple malformation syndrome, small stature, without skeletal dysplasia
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

403765001 View

403765001
Port-wine stain in rubinstein-taybi syndrome (disorder)
Port-wine stain in rubinstein-taybi syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (1da040f7-7c9c-5163-80f7-9ead855afa2e) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q87.2
TRUE
ALWAYS Q87.2
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