dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 721222007

Production

add

Component

721222007

The component that hold information about this concept.

Fully Specified Name (FSN)

Hirschsprung disease with type d brachydactyly syndrome (disorder)

Shortest Term

Hirschsprung disease with type d brachydactyly 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

Hirschsprung disease with type d brachydactyly syndrome (disorder)

SCTID: 721222007, Primitive, Active

721222007|Hirschsprung disease with type d brachydactyly syndrome (disorder)|

en Hirschsprung disease with type d brachydactyly syndrome
en Hirschsprung disease with type d brachydactyly syndrome (disorder)

Expression

721222007 |Hirschsprung disease with type d brachydactyly syndrome (disorder)|
 <<< 204739008 |Congenital aganglionic megacolon (disorder)| + 
41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
722997000 |Inherited autonomic nervous system disorder (disorder)| + 
24291004 |Congenital dilatation of colon (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
43476002 |Brachydactyly (disorder)| + 
363080007 |Digestive system hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 11182007 |Abnormally short growth (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 361367007 |Entire digit (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 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)| }
        { 363714003 |Interprets (attribute)| = 1162651003 |Gastrointestinal tract function (observable entity)| }
        { 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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3324661014 - Hirschsprung disease with type D brachydactyly syndrome (en) View
3324661014	en	Synonym (core metadata concept)	Hirschsprung disease with type D brachydactyly syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3324660010 - Hirschsprung disease with type D brachydactyly syndrome (disorder) (en) View
3324660010	en	Fully specified name (core metadata concept)	Hirschsprung disease with type D brachydactyly syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16377152027) - 721222007 -> 1162651003 (363714003) View
363714003 \|Interprets (attribute)\|	1162651003 \|Gastrointestinal tract function (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6760215021) - 721222007 -> 53520000 (363698007) View
363698007 \|Finding site (attribute)\|	53520000 \|Autonomic nerve structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12091322020) - 721222007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12091323026) - 721222007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12091324021) - 721222007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13647665029) - 721222007 -> 429921001 (363698007) View
363698007 \|Finding site (attribute)\|	429921001 \|Structure of peripheral part of autonomic nervous system (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13647701026) - 721222007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13647702022) - 721222007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13647703028) - 721222007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069313027) - 721222007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6760214020) - 721222007 -> 23424009 (363698007) View
363698007 \|Finding site (attribute)\|	23424009 \|Parasympathetic nervous system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10532612021) - 721222007 -> 58371004 (116676008) View
116676008 \|Associated morphology (attribute)\|	58371004 \|Congenital dilatation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11226932025) - 721222007 -> 25322007 (116676008) View
116676008 \|Associated morphology (attribute)\|	25322007 \|Dilatation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6760219026) - 721222007 -> 90141005 (116676008) View
116676008 \|Associated morphology (attribute)\|	90141005 \|Congenital hypertrophy (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6760220021) - 721222007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6760221020) - 721222007 -> 71854001 (363698007) View
363698007 \|Finding site (attribute)\|	71854001 \|Colon structure (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6760222029) - 721222007 -> 11182007 (116676008) View
116676008 \|Associated morphology (attribute)\|	11182007 \|Abnormally short growth (morphologic abnormality)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6760223023) - 721222007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6760224028) - 721222007 -> 361367007 (363698007) View
363698007 \|Finding site (attribute)\|	361367007 \|Entire digit (body structure)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6799456024) - 721222007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6799457026) - 721222007 -> 71854001 (363698007) View
363698007 \|Finding site (attribute)\|	71854001 \|Colon structure (body structure)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6807374020) - 721222007 -> 58371004 (116676008) View
116676008 \|Associated morphology (attribute)\|	58371004 \|Congenital dilatation (morphologic abnormality)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10532611025) - 721222007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532613027) - 721222007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532615023) - 721222007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532616024) - 721222007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532617026) - 721222007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532618020) - 721222007 -> 71854001 (363698007) View
363698007 \|Finding site (attribute)\|	71854001 \|Colon structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532619028) - 721222007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539864028) - 721222007 -> 71854001 (363698007) View
363698007 \|Finding site (attribute)\|	71854001 \|Colon structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10546867021) - 721222007 -> 11182007 (116676008) View
116676008 \|Associated morphology (attribute)\|	11182007 \|Abnormally short growth (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10546868027) - 721222007 -> 361367007 (363698007) View
363698007 \|Finding site (attribute)\|	361367007 \|Entire digit (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11106034024) - 721222007 -> 56246009 (116676008) View
116676008 \|Associated morphology (attribute)\|	56246009 \|Hypertrophy (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6760209021) - 721222007 -> 41443008 (116680003) View
116680003 \|Is a (attribute)\|	41443008 \|Multiple malformation syndrome with limb defect as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6760210027) - 721222007 -> 43476002 (116680003) View
116680003 \|Is a (attribute)\|	43476002 \|Brachydactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6760211028) - 721222007 -> 204739008 (116680003) View
116680003 \|Is a (attribute)\|	204739008 \|Congenital aganglionic megacolon (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6760212024) - 721222007 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6794926020) - 721222007 -> 722997000 (116680003) View
116680003 \|Is a (attribute)\|	722997000 \|Inherited autonomic nervous system disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6799454022) - 721222007 -> 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
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
722997000 View
722997000	Inherited autonomic nervous system disorder (disorder)	Inherited autonomic nervous system disorder	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
43476002 View
43476002	Brachydactyly (disorder)	Brachydactyly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
41443008 View
41443008	Multiple malformation syndrome with limb defect as major feature (disorder)	Multiple malformation syndrome with limb defect as major feature	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
363080007 View
363080007	Digestive system hereditary disorder (disorder)	Digestive system hereditary disorder	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 (7f5401c3-d362-54e4-97b7-c80d4f1baf1f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q71.8	TRUE	ALWAYS Q71.8	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 (95728bbc-4788-555b-989a-d4172caed9b5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q43.1	TRUE	ALWAYS Q43.1 \| 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)\|
ExtendedMap object (e4992bfb-049c-5e8c-b265-fac357fdad86) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q72.8	TRUE	ALWAYS Q72.8	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 721222007

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches