Loading...
dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 774149004

Production
add
774149004
The component that hold information about this concept.
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)
Iqsec2-related syndromic intellectual disability
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

Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)

SCTID: 774149004, Primitive, Active


774149004|Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)|
  • en Iqsec2 (iq motif and sec7 domain 2) related syndromic intellectual disability
  • en Iqsec2-related syndromic intellectual disability
  • en Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome
  • en Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)

774149004 |Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)|

<<< 40700009 |Severe intellectual disability (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    1148757008 |Microcephaly (finding)| +
    1162976004 |X-linked recessive hereditary disease (disorder)| +
    118934005 |Disorder of head (disorder)| +
    27624003 |Chronic disease (disorder)| +
    1362108000 |Genetic intellectual disability (disorder)| :
        { 370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 69536005 |Head structure (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
          363714003 |Interprets (attribute)| = 363812007 |Head circumference (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

3728141015 - IQSEC2 (IQ motif and Sec7 domain 2) related syndromic intellectual disability (en) View

3728141015
en
Synonym (core metadata concept)
IQSEC2 (IQ motif and Sec7 domain 2) related syndromic intellectual disability
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3728143017 - IQSEC2-related syndromic intellectual disability (en) View

3728143017
en
Synonym (core metadata concept)
IQSEC2-related syndromic intellectual disability
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3728144011 - Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (en) View

3728144011
en
Synonym (core metadata concept)
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3728142010 - Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) (en) View

3728142010
en
Fully specified name (core metadata concept)
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

Relationship (16316668025) - 774149004 -> 1362108000 (116680003) View

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

Relationship (14018850023) - 774149004 -> 128293007 (116680003) View

116680003 |Is a (attribute)|
128293007 |Chronic mental disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (15094836022) - 774149004 -> 247573007 (363714003) View

363714003 |Interprets (attribute)|
247573007 |Intellectual ability (observable entity)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15094837029) - 774149004 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
5
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15096201027) - 774149004 -> 406208005 (363714003) View

363714003 |Interprets (attribute)|
406208005 |Adaptation behavior (observable entity)|
6
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15096202023) - 774149004 -> 260379002 (363713009) View

363713009 |Has interpretation (attribute)|
260379002 |Impaired (qualifier value)|
6
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (15149523028) - 774149004 -> 27624003 (116680003) View

116680003 |Is a (attribute)|
27624003 |Chronic disease (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10624853021) - 774149004 -> 128430005 (116680003) View

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

Relationship (14018847020) - 774149004 -> 1148757008 (116680003) View

116680003 |Is a (attribute)|
1148757008 |Microcephaly (finding)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (14018848026) - 774149004 -> 1162976004 (116680003) View

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

Relationship (14018849023) - 774149004 -> 118934005 (116680003) View

116680003 |Is a (attribute)|
118934005 |Disorder of head (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (14018851022) - 774149004 -> 255314001 (263502005) View

263502005 |Clinical course (attribute)|
255314001 |Progressive (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (14018852026) - 774149004 -> 69536005 (363698007) View

363698007 |Finding site (attribute)|
69536005 |Head structure (body structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (14018853020) - 774149004 -> 363812007 (363714003) View

363714003 |Interprets (attribute)|
363812007 |Head circumference (observable entity)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (14018854025) - 774149004 -> 281300000 (363713009) View

363713009 |Has interpretation (attribute)|
281300000 |Below reference range (qualifier value)|
4
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (13070027022) - 774149004 -> 363070008 (116680003) View

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

Relationship (11574199029) - 774149004 -> 308490002 (370135005) View

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

Relationship (10624852027) - 774149004 -> 40700009 (116680003) View

116680003 |Is a (attribute)|
40700009 |Severe intellectual disability (disorder)|
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

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

1148757008 View

1148757008
Microcephaly (finding)
Microcephaly
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

40700009 View

40700009
Severe intellectual disability (disorder)
Severe mental handicap
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

27624003 View

27624003
Chronic disease (disorder)
Chronic disease
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

118934005 View

118934005
Disorder of head (disorder)
Disease of head
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

ExtendedMap object (444eefec-1bc2-5673-85ca-90a6aa5245e8) 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)|
esc