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Terminology chevron_right Concepts chevron_right 399040002

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Component

399040002

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital central hypoventilation (disorder)

Shortest Term

Ondine curse

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

Congenital central hypoventilation (disorder)

SCTID: 399040002, Primitive, Active

399040002|Congenital central hypoventilation (disorder)|

en Ondine curse
en Congenital central hypoventilation
en Congenital central hypoventilation (disorder)
en Congenital pulmonary hypoventilation
en Cchs - congenital central hypoventilation

Expression

399040002 |Congenital central hypoventilation (disorder)|
 <<< 24825006 |Central alveolar hypoventilation syndrome (disorder)| + 
15241006 |Disorder of autonomic nervous system (disorder)| + 
66091009 |Congenital disease (disorder)| : 
        { 363698007 |Finding site (attribute)| = 72167002 |Autonomic nervous system structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3526440015 - Ondine curse (en) View
3526440015	en	Synonym (core metadata concept)	Ondine curse	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1786634011 - Congenital central hypoventilation (en) View
1786634011	en	Synonym (core metadata concept)	Congenital central hypoventilation	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2819376019 - Congenital central hypoventilation (disorder) (en) View
2819376019	en	Fully specified name (core metadata concept)	Congenital central hypoventilation (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1786632010 - Congenital pulmonary hypoventilation (en) View
1786632010	en	Synonym (core metadata concept)	Congenital pulmonary hypoventilation	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1786633017 - Primary alveolar hypoventilation (en) View
1786633017	en	Synonym (core metadata concept)	Primary alveolar hypoventilation	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
1766960019 - CCHS - Congenital central hypoventilation (finding) (en) View
1766960019	en	Fully specified name (core metadata concept)	CCHS - Congenital central hypoventilation (finding)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	False
1778508011 - CCHS - Congenital central hypoventilation (en) View
1778508011	en	Synonym (core metadata concept)	CCHS - Congenital central hypoventilation	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (12081081021) - 399040002 -> 15241006 (116680003) View
116680003 \|Is a (attribute)\|	15241006 \|Disorder of autonomic nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12081082025) - 399040002 -> 72167002 (363698007) View
363698007 \|Finding site (attribute)\|	72167002 \|Autonomic nervous system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12081083024) - 399040002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12081084029) - 399040002 -> 66091009 (116680003) View
116680003 \|Is a (attribute)\|	66091009 \|Congenital disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3591305023) - 399040002 -> 258158006 (363714003) View
363714003 \|Interprets (attribute)\|	258158006 \|Sleep, function (observable entity)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2244517029) - 399040002 -> 13094009 (116680003) View
116680003 \|Is a (attribute)\|	13094009 \|Apnea in newborn (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2244518023) - 399040002 -> 95611007 (116680003) View
116680003 \|Is a (attribute)\|	95611007 \|Neonatal hypoventilation (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2283204023) - 399040002 -> 278907009 (363714003) View
363714003 \|Interprets (attribute)\|	278907009 \|Respiratory pattern (observable entity)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2283205024) - 399040002 -> 46680005 (363714003) View
363714003 \|Interprets (attribute)\|	46680005 \|Vital sign (observable entity)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2283207027) - 399040002 -> 45444009 (363714003) View
363714003 \|Interprets (attribute)\|	45444009 \|Ventilation, function (observable entity)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2501804028) - 399040002 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2754589023) - 399040002 -> 255407002 (246454002) View
246454002 \|Occurrence (attribute)\|	255407002 \|Neonatal (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2797569022) - 399040002 -> 20139000 (363698007) View
363698007 \|Finding site (attribute)\|	20139000 \|Structure of respiratory system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2851085021) - 399040002 -> 406122000 (116680003) View
116680003 \|Is a (attribute)\|	406122000 \|Head finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3574946029) - 399040002 -> 24825006 (116680003) View
116680003 \|Is a (attribute)\|	24825006 \|Central alveolar hypoventilation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2706150027) - 399040002 -> 299718000 (116680003) View
116680003 \|Is a (attribute)\|	299718000 \|Finding of brain (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2283206020) - 399040002 -> 118969007 (363698007) View
363698007 \|Finding site (attribute)\|	118969007 \|Respiratory system subdivision (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2472288021) - 399040002 -> 406122000 (116680003) View
116680003 \|Is a (attribute)\|	406122000 \|Head finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
15241006 View
15241006	Disorder of autonomic nervous system (disorder)	Dysautonomia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
66091009 View
66091009	Congenital disease (disorder)	Congenital disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
24825006 View
24825006	Central alveolar hypoventilation syndrome (disorder)	Central alveolar hypoventilation syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
719972004 View
719972004	Haddad syndrome (disorder)	Haddad syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (2d7667d2-b7ea-5184-b13b-02956eab74e1) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G47.3	TRUE	ALWAYS G47.3	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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