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Terminology chevron_right Concepts chevron_right 77128003

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Component

77128003

The component that hold information about this concept.

Fully Specified Name (FSN)

Digeorge sequence (disorder)

Shortest Term

Digeorge anomaly

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

Digeorge sequence (disorder)

SCTID: 77128003, Primitive, Inactive

77128003|Digeorge sequence (disorder)|

en Branchial arch syndrome
en Pharyngeal pouch syndrome
en Thymic hypoplasia syndrome
en Thymic-parathyroid aplasia
en Digeorge anomaly
en Digeorge sequence (disorder)
en Agenesis of the parathyroid and thymus glands
en Digeorge sequence
en Digeorge syndrome
en Third and fourth pharyngeal arch syndrome
en Third and fourth pharyngeal pouch syndrome

Expression

77128003 |Digeorge sequence (disorder)|
 <<< 

Diagram

Active

Inactive

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
1234064012 - Branchial arch syndrome (en) View
1234064012	en	Synonym (core metadata concept)	Branchial arch syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
128047019 - Pharyngeal pouch syndrome (en) View
128047019	en	Synonym (core metadata concept)	Pharyngeal pouch syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
128046011 - Thymic hypoplasia syndrome (en) View
128046011	en	Synonym (core metadata concept)	Thymic hypoplasia syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
128049016 - Thymic-parathyroid aplasia (en) View
128049016	en	Synonym (core metadata concept)	Thymic-parathyroid aplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1234065013 - DiGeorge anomaly (en) View
1234065013	en	Synonym (core metadata concept)	DiGeorge anomaly	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
817924013 - DiGeorge sequence (disorder) (en) View
817924013	en	Fully specified name (core metadata concept)	DiGeorge sequence (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
128048012 - Agenesis of the parathyroid and thymus glands (en) View
128048012	en	Synonym (core metadata concept)	Agenesis of the parathyroid and thymus glands	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
128044014 - Agenesis of the parathyroid AND thymus glands (en) View
128044014	en	Synonym (core metadata concept)	Agenesis of the parathyroid AND thymus glands	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
128043015 - DiGeorge sequence (en) View
128043015	en	Synonym (core metadata concept)	DiGeorge sequence	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
128050016 - DiGeorge syndrome (en) View
128050016	en	Synonym (core metadata concept)	DiGeorge syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
128051017 - Third and fourth pharyngeal arch syndrome (en) View
128051017	en	Synonym (core metadata concept)	Third and fourth pharyngeal arch syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
128053019 - Third AND fourth pharyngeal arch syndrome (en) View
128053019	en	Synonym (core metadata concept)	Third AND fourth pharyngeal arch syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
128052012 - Third and fourth pharyngeal pouch syndrome (en) View
128052012	en	Synonym (core metadata concept)	Third and fourth pharyngeal pouch syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
128045010 - Third AND fourth pharyngeal pouch syndrome (en) View
128045010	en	Synonym (core metadata concept)	Third AND fourth pharyngeal pouch syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (273394026) - 77128003 -> 38824008 (116680003) View
116680003 \|Is a (attribute)\|	38824008 \|Congenital anomaly of the thymus (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (273396029) - 77128003 -> 105989001 (116680003) View
116680003 \|Is a (attribute)\|	105989001 \|Malformation sequence (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2042726028) - 77128003 -> 73132005 (116680003) View
116680003 \|Is a (attribute)\|	73132005 \|Disorder of parathyroid gland (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3397246026) - 77128003 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3397247024) - 77128003 -> 111002 (363698007) View
363698007 \|Finding site (attribute)\|	111002 \|Parathyroid structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4672182025) - 77128003 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4672183024) - 77128003 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4672184029) - 77128003 -> 76307008 (363698007) View
363698007 \|Finding site (attribute)\|	76307008 \|Fourth pharyngeal pouch structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4672185028) - 77128003 -> 79666008 (363698007) View
363698007 \|Finding site (attribute)\|	79666008 \|Structure of third pharyngeal pouch (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4733114023) - 77128003 -> 609521009 (116680003) View
116680003 \|Is a (attribute)\|	609521009 \|Disorder of embryonic structure (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4979703027) - 77128003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4979704022) - 77128003 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4979705023) - 77128003 -> 9875009 (363698007) View
363698007 \|Finding site (attribute)\|	9875009 \|Thymus gland structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1682380029) - 77128003 -> 281867008 (116680003) View
116680003 \|Is a (attribute)\|	281867008 \|Multisystem disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (866607024) - 77128003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3397242029) - 77128003 -> 9875009 (363698007) View
363698007 \|Finding site (attribute)\|	9875009 \|Thymus gland structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3397243023) - 77128003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3397244028) - 77128003 -> 79666008 (363698007) View
363698007 \|Finding site (attribute)\|	79666008 \|Structure of third pharyngeal pouch (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3397245027) - 77128003 -> 76307008 (363698007) View
363698007 \|Finding site (attribute)\|	76307008 \|Fourth pharyngeal pouch structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3447242029) - 77128003 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (866603023) - 77128003 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (866604028) - 77128003 -> 79666008 (363698007) View
363698007 \|Finding site (attribute)\|	79666008 \|Structure of third pharyngeal pouch (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (866605027) - 77128003 -> 111002 (363698007) View
363698007 \|Finding site (attribute)\|	111002 \|Parathyroid structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (866606026) - 77128003 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (866608025) - 77128003 -> 76307008 (363698007) View
363698007 \|Finding site (attribute)\|	76307008 \|Fourth pharyngeal pouch structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (866609022) - 77128003 -> 9875009 (363698007) View
363698007 \|Finding site (attribute)\|	9875009 \|Thymus gland structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2737343026) - 77128003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2696879022) - 77128003 -> 298397000 (116680003) View
116680003 \|Is a (attribute)\|	298397000 \|Lesion of neck (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2042724025) - 77128003 -> 40052002 (116680003) View
116680003 \|Is a (attribute)\|	40052002 \|Congenital anomaly of neck (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2042725029) - 77128003 -> 4184009 (116680003) View
116680003 \|Is a (attribute)\|	4184009 \|Congenital anomaly of endocrine gland (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1682381025) - 77128003 -> 65274008 (116680003) View
116680003 \|Is a (attribute)\|	65274008 \|Congenital anomaly of parathyroid glands (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (273395025) - 77128003 -> 312566002 (116680003) View
116680003 \|Is a (attribute)\|	312566002 \|Multisystem disorder c-d (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

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 (d41ce2f6-5ea2-5fbd-862b-ca56d17db86b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D82.1	TRUE	ALWAYS D82.1	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)\|

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (273394026) - 77128003 -> 38824008 (116680003) View
116680003 \|Is a (attribute)\|	38824008 \|Congenital anomaly of the thymus (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (273396029) - 77128003 -> 105989001 (116680003) View
116680003 \|Is a (attribute)\|	105989001 \|Malformation sequence (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2042726028) - 77128003 -> 73132005 (116680003) View
116680003 \|Is a (attribute)\|	73132005 \|Disorder of parathyroid gland (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3397246026) - 77128003 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3397247024) - 77128003 -> 111002 (363698007) View
363698007 \|Finding site (attribute)\|	111002 \|Parathyroid structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4672182025) - 77128003 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4672183024) - 77128003 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4672184029) - 77128003 -> 76307008 (363698007) View
363698007 \|Finding site (attribute)\|	76307008 \|Fourth pharyngeal pouch structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4672185028) - 77128003 -> 79666008 (363698007) View
363698007 \|Finding site (attribute)\|	79666008 \|Structure of third pharyngeal pouch (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4733114023) - 77128003 -> 609521009 (116680003) View
116680003 \|Is a (attribute)\|	609521009 \|Disorder of embryonic structure (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4979703027) - 77128003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4979704022) - 77128003 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4979705023) - 77128003 -> 9875009 (363698007) View
363698007 \|Finding site (attribute)\|	9875009 \|Thymus gland structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1682380029) - 77128003 -> 281867008 (116680003) View
116680003 \|Is a (attribute)\|	281867008 \|Multisystem disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (866607024) - 77128003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3397242029) - 77128003 -> 9875009 (363698007) View
363698007 \|Finding site (attribute)\|	9875009 \|Thymus gland structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3397243023) - 77128003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3397244028) - 77128003 -> 79666008 (363698007) View
363698007 \|Finding site (attribute)\|	79666008 \|Structure of third pharyngeal pouch (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3397245027) - 77128003 -> 76307008 (363698007) View
363698007 \|Finding site (attribute)\|	76307008 \|Fourth pharyngeal pouch structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3447242029) - 77128003 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (866603023) - 77128003 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (866604028) - 77128003 -> 79666008 (363698007) View
363698007 \|Finding site (attribute)\|	79666008 \|Structure of third pharyngeal pouch (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (866605027) - 77128003 -> 111002 (363698007) View
363698007 \|Finding site (attribute)\|	111002 \|Parathyroid structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (866606026) - 77128003 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (866608025) - 77128003 -> 76307008 (363698007) View
363698007 \|Finding site (attribute)\|	76307008 \|Fourth pharyngeal pouch structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (866609022) - 77128003 -> 9875009 (363698007) View
363698007 \|Finding site (attribute)\|	9875009 \|Thymus gland structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2737343026) - 77128003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2696879022) - 77128003 -> 298397000 (116680003) View
116680003 \|Is a (attribute)\|	298397000 \|Lesion of neck (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2042724025) - 77128003 -> 40052002 (116680003) View
116680003 \|Is a (attribute)\|	40052002 \|Congenital anomaly of neck (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2042725029) - 77128003 -> 4184009 (116680003) View
116680003 \|Is a (attribute)\|	4184009 \|Congenital anomaly of endocrine gland (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1682381025) - 77128003 -> 65274008 (116680003) View
116680003 \|Is a (attribute)\|	65274008 \|Congenital anomaly of parathyroid glands (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (273395025) - 77128003 -> 312566002 (116680003) View
116680003 \|Is a (attribute)\|	312566002 \|Multisystem disorder c-d (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

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