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Terminology chevron_right Concepts chevron_right 1254652005

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Component

1254652005

The component that hold information about this concept.

Fully Specified Name (FSN)

Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome (disorder)

Shortest Term

Ppp2r5d-related intellectual disability

Definition Status

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

Summary

Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome (disorder)

SCTID: 1254652005, Primitive, Active

1254652005|Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome (disorder)|

en Ppp2r5d-related intellectual disability
en Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome
en Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome (disorder)
en Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome

Expression

1254652005 |Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
1145402008 |Congenital macrocephaly (disorder)| + 
224958001 |Global developmental delay (disorder)| + 
35919005 |Pervasive developmental disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
398151007 |Decreased muscle tone (finding)| + 
398152000 |Poor muscle tone (finding)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
75047002 |Disorder of skeletal muscle (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| + 
1137472008 |Neurodevelopmental delay (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 442021009 |Enlargement (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 69536005 |Head structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 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)| }
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 1250004 |Decreased (qualifier value)|,
363714003 |Interprets (attribute)| = 6918002 |Muscle tone (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)| }
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 363812007 |Head circumference (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 371880002 |Abnormally low (qualifier value)|,
363714003 |Interprets (attribute)| = 6918002 |Muscle tone (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5444544013 - PPP2R5D-related intellectual disability (en) View
5444544013	en	Synonym (core metadata concept)	PPP2R5D-related intellectual disability	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5142878014 - Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome (en) View
5142878014	en	Synonym (core metadata concept)	Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5142879018 - Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome (disorder) (en) View
5142879018	en	Fully specified name (core metadata concept)	Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5142877016 - Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome (en) View
5142877016	en	Synonym (core metadata concept)	Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16405793024) - 1254652005 -> 6918002 (363714003) View
363714003 \|Interprets (attribute)\|	6918002 \|Muscle tone (observable entity)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16405794029) - 1254652005 -> 371880002 (363713009) View
363713009 \|Has interpretation (attribute)\|	371880002 \|Abnormally low (qualifier value)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16407904029) - 1254652005 -> 1137472008 (116680003) View
116680003 \|Is a (attribute)\|	1137472008 \|Neurodevelopmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390950020) - 1254652005 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316978029) - 1254652005 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390951024) - 1254652005 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390952028) - 1254652005 -> 1145402008 (116680003) View
116680003 \|Is a (attribute)\|	1145402008 \|Congenital macrocephaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390953022) - 1254652005 -> 224958001 (116680003) View
116680003 \|Is a (attribute)\|	224958001 \|Global developmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390954027) - 1254652005 -> 35919005 (116680003) View
116680003 \|Is a (attribute)\|	35919005 \|Pervasive developmental disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390955026) - 1254652005 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390956025) - 1254652005 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390957023) - 1254652005 -> 398151007 (116680003) View
116680003 \|Is a (attribute)\|	398151007 \|Decreased muscle tone (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390958029) - 1254652005 -> 398152000 (116680003) View
116680003 \|Is a (attribute)\|	398152000 \|Poor muscle tone (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390959021) - 1254652005 -> 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 (15390960027) - 1254652005 -> 75047002 (116680003) View
116680003 \|Is a (attribute)\|	75047002 \|Disorder of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390961028) - 1254652005 -> 6918002 (363714003) View
363714003 \|Interprets (attribute)\|	6918002 \|Muscle tone (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390962024) - 1254652005 -> 1250004 (363713009) View
363713009 \|Has interpretation (attribute)\|	1250004 \|Decreased (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390963025) - 1254652005 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390964020) - 1254652005 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390965021) - 1254652005 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390966022) - 1254652005 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390967029) - 1254652005 -> 363812007 (363714003) View
363714003 \|Interprets (attribute)\|	363812007 \|Head circumference (observable entity)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390968023) - 1254652005 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390969026) - 1254652005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390970025) - 1254652005 -> 69536005 (363698007) View
363698007 \|Finding site (attribute)\|	69536005 \|Head structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390971026) - 1254652005 -> 442021009 (116676008) View
116676008 \|Associated morphology (attribute)\|	442021009 \|Enlargement (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390972022) - 1254652005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390973028) - 1254652005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390974023) - 1254652005 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390975024) - 1254652005 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390976020) - 1254652005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390977027) - 1254652005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15390978021) - 1254652005 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
398152000 View
398152000	Poor muscle tone (finding)	Hypotonia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1137472008 View
1137472008	Neurodevelopmental delay (disorder)	Neurodevelopmental delay	900000000000073002 \|Sufficiently defined by necessary conditions definition status (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
1145402008 View
1145402008	Congenital macrocephaly (disorder)	Congenital macrocephaly	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
398151007 View
398151007	Decreased muscle tone (finding)	Giảm trương lực cơ	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
35919005 View
35919005	Pervasive developmental disorder (disorder)	Autism	900000000000074008 \|Necessary but not sufficient concept 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
75047002 View
75047002	Disorder of skeletal muscle (disorder)	Disorder of muscle	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
224958001 View
224958001	Global developmental delay (disorder)	Global developmental delay	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363212003 View
363212003	Hereditary disorder of musculoskeletal system (disorder)	Hereditary disorder of musculoskeletal system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (5025d605-fdeb-5836-aaa9-0a92e236584b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.0	TRUE	ALWAYS Q87.0 \| 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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