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Terminology chevron_right Concepts chevron_right 733062000

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733062000
The component that hold information about this concept.
Marfanoid habitus with autosomal recessive intellectual disability syndrome (disorder)
Marfanoid habitus, intellectual disability autosomal recessive
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

Marfanoid habitus with autosomal recessive intellectual disability syndrome (disorder)

SCTID: 733062000, Primitive, Active


733062000|Marfanoid habitus with autosomal recessive intellectual disability syndrome (disorder)|
  • en Marfanoid habitus, intellectual disability autosomal recessive
  • en Marfanoid habitus with autosomal recessive intellectual disability syndrome
  • en Marfanoid habitus with autosomal recessive intellectual disability syndrome (disorder)

733062000 |Marfanoid habitus with autosomal recessive intellectual disability syndrome (disorder)|

<<< 65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    248298009 |Marfanoid physique (finding)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    1362108000 |Genetic intellectual disability (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 89545001 |Face structure (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 248295007 |Physique type (observable entity)| }
        { 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

3498654011 - Marfanoid habitus, intellectual disability autosomal recessive (en) View

3498654011
en
Synonym (core metadata concept)
Marfanoid habitus, intellectual disability autosomal recessive
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3498653017 - Marfanoid habitus with autosomal recessive intellectual disability syndrome (en) View

3498653017
en
Synonym (core metadata concept)
Marfanoid habitus with autosomal recessive intellectual disability syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3498655012 - Marfanoid habitus with autosomal recessive intellectual disability syndrome (disorder) (en) View

3498655012
en
Fully specified name (core metadata concept)
Marfanoid habitus with autosomal recessive intellectual disability syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (9127996021) - 733062000 -> 110359009 (116680003) View

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

Relationship (16316815023) - 733062000 -> 1362108000 (116680003) View

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

Relationship (15095183026) - 733062000 -> 247573007 (363714003) View

363714003 |Interprets (attribute)|
247573007 |Intellectual ability (observable entity)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15095184021) - 733062000 -> 260379002 (363713009) View

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

Relationship (15096547023) - 733062000 -> 406208005 (363714003) View

363714003 |Interprets (attribute)|
406208005 |Adaptation behavior (observable entity)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15096548029) - 733062000 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13069545020) - 733062000 -> 363070008 (116680003) View

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

Relationship (6994186021) - 733062000 -> 248295007 (363714003) View

363714003 |Interprets (attribute)|
248295007 |Physique type (observable entity)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6994187028) - 733062000 -> 21390004 (116676008) View

116676008 |Associated morphology (attribute)|
21390004 |Developmental anomaly (morphologic abnormality)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6994188022) - 733062000 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6994189025) - 733062000 -> 89545001 (363698007) View

363698007 |Finding site (attribute)|
89545001 |Face structure (body structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (10529648028) - 733062000 -> 89545001 (363698007) View

363698007 |Finding site (attribute)|
89545001 |Face structure (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10529649020) - 733062000 -> 255399007 (246454002) View

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

Relationship (10529650020) - 733062000 -> 49755003 (116676008) View

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

Relationship (10529651024) - 733062000 -> 308490002 (370135005) View

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

Relationship (6994184024) - 733062000 -> 91138005 (116680003) View

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

Relationship (6994182023) - 733062000 -> 65094009 (116680003) View

116680003 |Is a (attribute)|
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6994183029) - 733062000 -> 85995004 (116680003) View

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

Relationship (6994185020) - 733062000 -> 248298009 (116680003) View

116680003 |Is a (attribute)|
248298009 |Marfanoid physique (finding)|
0
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

363070008 View

363070008
Developmental hereditary disorder (disorder)
Developmental hereditary disorder
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

65094009 View

65094009
Multiple malformation syndrome with facial defects as major feature (disorder)
Multiple malformation syndrome with facial defects as major feature
900000000000074008 |Necessary but not sufficient concept 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

248298009 View

248298009
Marfanoid physique (finding)
Marfanoid physique
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (f7c3ef5c-e707-5bd0-9dc7-c8ac620eac34) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q87.8
TRUE
ALWAYS Q87.8 | 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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