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Terminology chevron_right Concepts chevron_right 1208338004

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Component

1208338004

The component that hold information about this concept.

Fully Specified Name (FSN)

Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder)

Shortest Term

Medeira dennis donnai 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

Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder)

SCTID: 1208338004, Primitive, Active

1208338004|Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder)|

en Dysraphism, cleft lip and palate, limb reduction defect syndrome
en Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder)
en Medeira dennis donnai syndrome

Expression

1208338004 |Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder)|
 <<< 41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
67341007 |Longitudinal deficiency of limb (disorder)| + 
782964007 |Genetic disease (disorder)| + 
66948001 |Cleft palate with cleft lip (disorder)| + 
89369001 |Anencephalus (disorder)| + 
249491000119100 |Structural developmental anomalies of neurenteric canal (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 371520008 |Developmental failure of fusion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 48477009 |Lip structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 418560003 |Absence (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 45056002 |Abnormally short (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 243996003 |Entire limb (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)| = 361465000 |Neurenteric canal (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 371520008 |Developmental failure of fusion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 72914001 |Palatal structure (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
4963720011 - Dysraphism, cleft lip and palate, limb reduction defect syndrome (en) View
4963720011	en	Synonym (core metadata concept)	Dysraphism, cleft lip and palate, limb reduction defect syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4963721010 - Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) (en) View
4963721010	en	Fully specified name (core metadata concept)	Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4963722015 - Medeira Dennis Donnai syndrome (en) View
4963722015	en	Synonym (core metadata concept)	Medeira Dennis Donnai syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15092803020) - 1208338004 -> 249491000119100 (116680003) View
116680003 \|Is a (attribute)\|	249491000119100 \|Structural developmental anomalies of neurenteric canal (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092804025) - 1208338004 -> 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 (15092805029) - 1208338004 -> 67341007 (116680003) View
116680003 \|Is a (attribute)\|	67341007 \|Longitudinal deficiency of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092806028) - 1208338004 -> 782964007 (116680003) View
116680003 \|Is a (attribute)\|	782964007 \|Genetic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092808027) - 1208338004 -> 89369001 (116680003) View
116680003 \|Is a (attribute)\|	89369001 \|Anencephalus (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092809024) - 1208338004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092810025) - 1208338004 -> 48477009 (363698007) View
363698007 \|Finding site (attribute)\|	48477009 \|Lip structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092811026) - 1208338004 -> 371520008 (116676008) View
116676008 \|Associated morphology (attribute)\|	371520008 \|Developmental failure of fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092812022) - 1208338004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092813028) - 1208338004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092814023) - 1208338004 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092815024) - 1208338004 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092816020) - 1208338004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092817027) - 1208338004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092818021) - 1208338004 -> 243996003 (363698007) View
363698007 \|Finding site (attribute)\|	243996003 \|Entire limb (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092819029) - 1208338004 -> 45056002 (116676008) View
116676008 \|Associated morphology (attribute)\|	45056002 \|Abnormally short (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092820024) - 1208338004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092821023) - 1208338004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092822027) - 1208338004 -> 361465000 (363698007) View
363698007 \|Finding site (attribute)\|	361465000 \|Neurenteric canal (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092823021) - 1208338004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092824026) - 1208338004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092825025) - 1208338004 -> 66948001 (116680003) View
116680003 \|Is a (attribute)\|	66948001 \|Cleft palate with cleft lip (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092826029) - 1208338004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092827022) - 1208338004 -> 72914001 (363698007) View
363698007 \|Finding site (attribute)\|	72914001 \|Palatal structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092828028) - 1208338004 -> 371520008 (116676008) View
116676008 \|Associated morphology (attribute)\|	371520008 \|Developmental failure of fusion (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15092829020) - 1208338004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
89369001 View
89369001	Anencephalus (disorder)	Anencephaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
782964007 View
782964007	Genetic disease (disorder)	Genetic disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
67341007 View
67341007	Longitudinal deficiency of limb (disorder)	Hemimelia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
249491000119100 View
249491000119100	Structural developmental anomalies of neurenteric canal (disorder)	Spinal dysraphism	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
66948001 View
66948001	Cleft palate with cleft lip (disorder)	Sứt môi hở hàm ếch	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

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 (b9b3b4bc-ffaa-5b37-9793-0b1fa2cf570b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q00.0	TRUE	ALWAYS Q00.0 \| 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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