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Terminology chevron_right Concepts chevron_right 716996008

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716996008
The component that hold information about this concept.
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder)
L1 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

Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder)

SCTID: 716996008, Primitive, Active


716996008|Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder)|
  • en Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome
  • en Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome (disorder)
  • en Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome
  • en Crash syndrome
  • en L1 syndrome

716996008 |Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder)|

<<< 41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| +
    204043002 |Hypoplasia of corpus callosum (disorder)| +
    363235000 |Hereditary disorder of nervous system (disorder)| +
    47032000 |Congenital hydrocephalus (disorder)| +
    363070008 |Developmental hereditary disorder (disorder)| +
    1162976004 |X-linked recessive hereditary disease (disorder)| +
    1362108000 |Genetic intellectual disability (disorder)| :
        { 116676008 |Associated morphology (attribute)| = 25322007 |Dilatation (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 280371009 |Brain cerebrospinal fluid pathway (body structure)|,
          246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
          370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 55199003 |Hypoplasia (morphologic abnormality)|,
          363698007 |Finding site (attribute)| = 88442005 |Corpus callosum structure (body 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

3308121010 - Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) (en) View

3308121010
en
Fully specified name (core metadata concept)
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
False

5155333017 - Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome (en) View

5155333017
en
Synonym (core metadata concept)
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

5155332010 - Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome (disorder) (en) View

5155332010
en
Fully specified name (core metadata concept)
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

3308122015 - Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (en) View

3308122015
en
Synonym (core metadata concept)
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

3308124019 - CRASH syndrome (en) View

3308124019
en
Synonym (core metadata concept)
CRASH syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

3308123013 - L1 syndrome (en) View

3308123013
en
Synonym (core metadata concept)
L1 syndrome
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

Relationship (9127811029) - 716996008 -> 110359009 (116680003) View

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

Relationship (16316834023) - 716996008 -> 1362108000 (116680003) View

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

Relationship (15095227023) - 716996008 -> 247573007 (363714003) View

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

Relationship (15095228029) - 716996008 -> 260379002 (363713009) View

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

Relationship (15096591023) - 716996008 -> 406208005 (363714003) View

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

Relationship (15096592027) - 716996008 -> 260379002 (363713009) View

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

Relationship (6594798024) - 716996008 -> 128430005 (116680003) View

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

Relationship (14011169023) - 716996008 -> 1162976004 (116680003) View

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

Relationship (13069653021) - 716996008 -> 363070008 (116680003) View

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

Relationship (10539945022) - 716996008 -> 58371004 (116676008) View

116676008 |Associated morphology (attribute)|
58371004 |Congenital dilatation (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (11225315028) - 716996008 -> 25322007 (116676008) View

116676008 |Associated morphology (attribute)|
25322007 |Dilatation (morphologic abnormality)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6594801029) - 716996008 -> 55199003 (116676008) View

116676008 |Associated morphology (attribute)|
55199003 |Hypoplasia (morphologic abnormality)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6594803026) - 716996008 -> 88442005 (363698007) View

363698007 |Finding site (attribute)|
88442005 |Corpus callosum structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6594805022) - 716996008 -> 255399007 (246454002) View

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

Relationship (6598127024) - 716996008 -> 58371004 (116676008) View

116676008 |Associated morphology (attribute)|
58371004 |Congenital dilatation (morphologic abnormality)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6598128025) - 716996008 -> 280371009 (363698007) View

363698007 |Finding site (attribute)|
280371009 |Brain cerebrospinal fluid pathway (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6598129022) - 716996008 -> 55199003 (116676008) View

116676008 |Associated morphology (attribute)|
55199003 |Hypoplasia (morphologic abnormality)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (6598130028) - 716996008 -> 88442005 (363698007) View

363698007 |Finding site (attribute)|
88442005 |Corpus callosum structure (body structure)|
3
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (10533098026) - 716996008 -> 255399007 (246454002) View

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

Relationship (10533100026) - 716996008 -> 308490002 (370135005) View

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

Relationship (10533101027) - 716996008 -> 308490002 (370135005) View

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

Relationship (10539946023) - 716996008 -> 280371009 (363698007) View

363698007 |Finding site (attribute)|
280371009 |Brain cerebrospinal fluid pathway (body structure)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (10737349029) - 716996008 -> 47032000 (116680003) View

116680003 |Is a (attribute)|
47032000 |Congenital hydrocephalus (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6594797025) - 716996008 -> 91138005 (116680003) View

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

Relationship (6594796023) - 716996008 -> 41443008 (116680003) View

116680003 |Is a (attribute)|
41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6594799027) - 716996008 -> 204043002 (116680003) View

116680003 |Is a (attribute)|
204043002 |Hypoplasia of corpus callosum (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6594800028) - 716996008 -> 363235000 (116680003) View

116680003 |Is a (attribute)|
363235000 |Hereditary disorder of nervous system (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (6594802020) - 716996008 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
2
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

204043002 View

204043002
Hypoplasia of corpus callosum (disorder)
Hypoplasia of corpus callosum
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

47032000 View

47032000
Congenital hydrocephalus (disorder)
Primary hydrocephaly
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

41443008 View

41443008
Multiple malformation syndrome with limb defect as major feature (disorder)
Multiple malformation syndrome with limb defect as major feature
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

363235000 View

363235000
Hereditary disorder of nervous system (disorder)
Hereditary disorder of nervous system
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

1010630006 View

1010630006
X-linked complicated corpus callosum dysgenesis (disorder)
X-linked complicated corpus callosum dysgenesis
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

838441009 View

838441009
Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome (disorder)
Masa syndrome
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (4383dfd5-dde1-55b6-af71-19edff77723d) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
Q04.8
TRUE
ALWAYS Q04.8 | 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