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Terminology chevron_right Concepts chevron_right 1362022003

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Component

1362022003

The component that hold information about this concept.

Fully Specified Name (FSN)

Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome (disorder)

Shortest Term

Fatal pontocerebellar hypoplasia, hypotonia, respiratory distress 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

Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome (disorder)

SCTID: 1362022003, Primitive, Active

1362022003|Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome (disorder)|

en Fatal pontocerebellar hypoplasia, hypotonia, respiratory distress syndrome
en Fatal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
en Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
en Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome (disorder)

Expression

1362022003 |Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome (disorder)|
 <<< 205294008 |Neonatal hypotonia (disorder)| + 
276536005 |Neonatal respiratory insufficiency syndrome (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
45163000 |Congenital pontocerebellar hypoplasia (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 55199003 |Hypoplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 113305005 |Cerebellar structure (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)| = 49557009 |Pontine 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)| = 255407002 |Neonatal (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 3058005 |Peripheral nervous system structure (body structure)|,
246454002 |Occurrence (attribute)| = 255407002 |Neonatal (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 20139000 |Structure of respiratory system (body structure)|,
246454002 |Occurrence (attribute)| = 255407002 |Neonatal (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
5443873012 - Fatal pontocerebellar hypoplasia, hypotonia, respiratory distress syndrome (en) View
5443873012	en	Synonym (core metadata concept)	Fatal pontocerebellar hypoplasia, hypotonia, respiratory distress syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
5443872019 - Fatal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome (en) View
5443872019	en	Synonym (core metadata concept)	Fatal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
5443874018 - Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome (en) View
5443874018	en	Synonym (core metadata concept)	Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5443875017 - Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome (disorder) (en) View
5443875017	en	Fully specified name (core metadata concept)	Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16405800022) - 1362022003 -> 371880002 (363713009) View
363713009 \|Has interpretation (attribute)\|	371880002 \|Abnormally low (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315472025) - 1362022003 -> 205294008 (116680003) View
116680003 \|Is a (attribute)\|	205294008 \|Neonatal hypotonia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315473024) - 1362022003 -> 276536005 (116680003) View
116680003 \|Is a (attribute)\|	276536005 \|Neonatal respiratory insufficiency syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315475028) - 1362022003 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315476027) - 1362022003 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315477020) - 1362022003 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315478026) - 1362022003 -> 45163000 (116680003) View
116680003 \|Is a (attribute)\|	45163000 \|Congenital pontocerebellar hypoplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315479023) - 1362022003 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315480021) - 1362022003 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315481020) - 1362022003 -> 6918002 (363714003) View
363714003 \|Interprets (attribute)\|	6918002 \|Muscle tone (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315482029) - 1362022003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315483023) - 1362022003 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315484028) - 1362022003 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315485027) - 1362022003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315486026) - 1362022003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315487024) - 1362022003 -> 49557009 (363698007) View
363698007 \|Finding site (attribute)\|	49557009 \|Pontine structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315488025) - 1362022003 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315489022) - 1362022003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315490029) - 1362022003 -> 255407002 (246454002) View
246454002 \|Occurrence (attribute)\|	255407002 \|Neonatal (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315491025) - 1362022003 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315492021) - 1362022003 -> 255407002 (246454002) View
246454002 \|Occurrence (attribute)\|	255407002 \|Neonatal (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315493027) - 1362022003 -> 3058005 (363698007) View
363698007 \|Finding site (attribute)\|	3058005 \|Peripheral nervous system structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315495023) - 1362022003 -> 20139000 (363698007) View
363698007 \|Finding site (attribute)\|	20139000 \|Structure of respiratory system (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16315513026) - 1362022003 -> 255407002 (246454002) View
246454002 \|Occurrence (attribute)\|	255407002 \|Neonatal (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
276536005 View
276536005	Neonatal respiratory insufficiency syndrome (disorder)	Hội chứng suy hô hấp sơ sinh	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
45163000 View
45163000	Congenital pontocerebellar hypoplasia (disorder)	Congenital pontocerebellar hypoplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
205294008 View
205294008	Neonatal hypotonia (disorder)	Floppy baby	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	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
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
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

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 (bbc92293-e50d-58df-a9eb-4a189304b454) 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)\|

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