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Terminology chevron_right Concepts chevron_right 719972004

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Component

719972004

The component that hold information about this concept.

Fully Specified Name (FSN)

Haddad syndrome (disorder)

Shortest Term

Haddad 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

Haddad syndrome (disorder)

SCTID: 719972004, Primitive, Active

719972004|Haddad syndrome (disorder)|

en Congenital central alveolar hypoventilation with hirschsprung disease syndrome
en Haddad syndrome
en Haddad syndrome (disorder)
en Ondine hirschsprung disease
en Ondine hirschsprung syndrome

Expression

719972004 |Haddad syndrome (disorder)|
 <<< 204739008 |Congenital aganglionic megacolon (disorder)| + 
399040002 |Congenital central hypoventilation (disorder)| + 
24291004 |Congenital dilatation of colon (disorder)| + 
277879009 |Autonomic neuropathy (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25322007 |Dilatation (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 71854001 |Colon structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 56246009 |Hypertrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 71854001 |Colon 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)| = 53520000 |Autonomic nerve 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)| = 429921001 |Structure of peripheral part of autonomic nervous system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 1162651003 |Gastrointestinal tract function (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3318655019 - Congenital central alveolar hypoventilation with Hirschsprung disease syndrome (en) View
3318655019	en	Synonym (core metadata concept)	Congenital central alveolar hypoventilation with Hirschsprung disease syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3318654015 - Haddad syndrome (en) View
3318654015	en	Synonym (core metadata concept)	Haddad syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3318653014 - Haddad syndrome (disorder) (en) View
3318653014	en	Fully specified name (core metadata concept)	Haddad syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3318656018 - Ondine Hirschsprung disease (en) View
3318656018	en	Synonym (core metadata concept)	Ondine Hirschsprung disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3318657010 - Ondine Hirschsprung syndrome (en) View
3318657010	en	Synonym (core metadata concept)	Ondine Hirschsprung syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16377149024) - 719972004 -> 1162651003 (363714003) View
363714003 \|Interprets (attribute)\|	1162651003 \|Gastrointestinal tract function (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16298152022) - 719972004 -> 277879009 (116680003) View
116680003 \|Is a (attribute)\|	277879009 \|Autonomic neuropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13647663020) - 719972004 -> 429921001 (363698007) View
363698007 \|Finding site (attribute)\|	429921001 \|Structure of peripheral part of autonomic nervous system (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13647695021) - 719972004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13647696022) - 719972004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13647697029) - 719972004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091069020) - 719972004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091070021) - 719972004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091071020) - 719972004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644701021) - 719972004 -> 23424009 (363698007) View
363698007 \|Finding site (attribute)\|	23424009 \|Parasympathetic nervous system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6644702025) - 719972004 -> 53520000 (363698007) View
363698007 \|Finding site (attribute)\|	53520000 \|Autonomic nerve structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528113026) - 719972004 -> 58371004 (116676008) View
116676008 \|Associated morphology (attribute)\|	58371004 \|Congenital dilatation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11225646023) - 719972004 -> 25322007 (116676008) View
116676008 \|Associated morphology (attribute)\|	25322007 \|Dilatation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644706027) - 719972004 -> 90141005 (116676008) View
116676008 \|Associated morphology (attribute)\|	90141005 \|Congenital hypertrophy (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6644707020) - 719972004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6644708026) - 719972004 -> 71854001 (363698007) View
363698007 \|Finding site (attribute)\|	71854001 \|Colon structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6799446020) - 719972004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6799447027) - 719972004 -> 71854001 (363698007) View
363698007 \|Finding site (attribute)\|	71854001 \|Colon structure (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6807371028) - 719972004 -> 58371004 (116676008) View
116676008 \|Associated morphology (attribute)\|	58371004 \|Congenital dilatation (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10528109022) - 719972004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528110028) - 719972004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528112020) - 719972004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528114021) - 719972004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528115022) - 719972004 -> 71854001 (363698007) View
363698007 \|Finding site (attribute)\|	71854001 \|Colon structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528116023) - 719972004 -> 71854001 (363698007) View
363698007 \|Finding site (attribute)\|	71854001 \|Colon structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11105964022) - 719972004 -> 56246009 (116676008) View
116676008 \|Associated morphology (attribute)\|	56246009 \|Hypertrophy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644699021) - 719972004 -> 204739008 (116680003) View
116680003 \|Is a (attribute)\|	204739008 \|Congenital aganglionic megacolon (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644700022) - 719972004 -> 399040002 (116680003) View
116680003 \|Is a (attribute)\|	399040002 \|Congenital central hypoventilation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6799444023) - 719972004 -> 24291004 (116680003) View
116680003 \|Is a (attribute)\|	24291004 \|Congenital dilatation of colon (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
277879009 View
277879009	Autonomic neuropathy (disorder)	Autonomic neuropathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
24291004 View
24291004	Congenital dilatation of colon (disorder)	Congenital megacolon	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
399040002 View
399040002	Congenital central hypoventilation (disorder)	Ondine curse	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
204739008 View
204739008	Congenital aganglionic megacolon (disorder)	Aganglionosis	900000000000074008 \|Necessary but not sufficient concept 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 (6fa42f4f-660a-57b1-9f70-383de99fce3e) 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)\|
ExtendedMap object (baf53316-77dd-50c7-92e4-01073711554a) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q43.1	TRUE	ALWAYS Q43.1	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)\|

Terminology chevron_right Concepts chevron_right 719972004

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