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Terminology chevron_right Concepts chevron_right 785303004

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Component

785303004

The component that hold information about this concept.

Fully Specified Name (FSN)

Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)

Shortest Term

Multiple congenital anomalies, hypotonia, seizures syndrome

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

Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)

SCTID: 785303004, Primitive, Active

785303004|Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)|

en Congenital disorder of glycosylation due to pign (phosphatidylinositol glycan anchor biosynthesis class n) deficiency
en Multiple congenital anomalies, hypotonia, seizures syndrome
en Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)
en Pign-cdg - phosphatidylinositol glycan anchor biosynthesis class n congenital disorder of glycosylation

Expression

785303004 |Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)|
 <<< 128190004 |Inherited metabolic disorder of nervous system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
238049009 |Carbohydrate-deficient glycoprotein syndrome (disorder)| + 
398152000 |Poor muscle tone (finding)| + 
128613002 |Seizure disorder (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
75047002 |Disorder of skeletal muscle (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (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)| }
        { 363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 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
3766849011 - Congenital disorder of glycosylation due to PIGN (phosphatidylinositol glycan anchor biosynthesis class N) deficiency (en) View
3766849011	en	Synonym (core metadata concept)	Congenital disorder of glycosylation due to PIGN (phosphatidylinositol glycan anchor biosynthesis class N) deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3766851010 - Multiple congenital anomalies, hypotonia, seizures syndrome (en) View
3766851010	en	Synonym (core metadata concept)	Multiple congenital anomalies, hypotonia, seizures syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3766848015 - Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) (en) View
3766848015	en	Fully specified name (core metadata concept)	Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3766850011 - PIGN-CDG - phosphatidylinositol glycan anchor biosynthesis class N congenital disorder of glycosylation (en) View
3766850011	en	Synonym (core metadata concept)	PIGN-CDG - phosphatidylinositol glycan anchor biosynthesis class N congenital disorder of glycosylation	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16405774022) - 785303004 -> 371880002 (363713009) View
363713009 \|Has interpretation (attribute)\|	371880002 \|Abnormally low (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11411417029) - 785303004 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15120434028) - 785303004 -> 128190004 (116680003) View
116680003 \|Is a (attribute)\|	128190004 \|Inherited metabolic disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069769022) - 785303004 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11411414020) - 785303004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11411415021) - 785303004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11411416022) - 785303004 -> 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 (11411418023) - 785303004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11411419026) - 785303004 -> 238049009 (116680003) View
116680003 \|Is a (attribute)\|	238049009 \|Carbohydrate-deficient glycoprotein syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11411420021) - 785303004 -> 398152000 (116680003) View
116680003 \|Is a (attribute)\|	398152000 \|Poor muscle tone (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11411421020) - 785303004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11411422029) - 785303004 -> 128613002 (116680003) View
116680003 \|Is a (attribute)\|	128613002 \|Seizure disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11411423023) - 785303004 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11411424028) - 785303004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11411425027) - 785303004 -> 75047002 (116680003) View
116680003 \|Is a (attribute)\|	75047002 \|Disorder of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11411426026) - 785303004 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11411428025) - 785303004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11411429022) - 785303004 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11411430028) - 785303004 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11573443025) - 785303004 -> 6918002 (363714003) View
363714003 \|Interprets (attribute)\|	6918002 \|Muscle tone (observable entity)\|	4	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
128190004 View
128190004	Inherited metabolic disorder of nervous system (disorder)	Inherited metabolic disorder of nervous system	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
128613002 View
128613002	Seizure disorder (disorder)	Bệnh co giật	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
75047002 View
75047002	Disorder of skeletal muscle (disorder)	Disorder of muscle	900000000000073002 \|Sufficiently defined by necessary conditions 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
238049009 View
238049009	Carbohydrate-deficient glycoprotein syndrome (disorder)	Congenital disorder of glycosylation	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 (25fd6fac-ef84-55a4-a649-40edff16e268) 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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