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Terminology chevron_right Concepts chevron_right 766032007

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Component

766032007

The component that hold information about this concept.

Fully Specified Name (FSN)

Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (disorder)

Shortest Term

Hartsfield 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

Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (disorder)

SCTID: 766032007, Primitive, Active

766032007|Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (disorder)|

en Hartsfield bixler demyer syndrome
en Hartsfield syndrome
en Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome
en Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (disorder)

Expression

766032007 |Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (disorder)|
 <<< 81208006 |Ectrodactyly (disorder)| + 
1899006 |Autosomal hereditary disorder (disorder)| + 
41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
30915001 |Holoprosencephaly sequence (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 69536005 |Head 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)| = 361367007 |Entire digit (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
3660452018 - Hartsfield Bixler Demyer syndrome (en) View
3660452018	en	Synonym (core metadata concept)	Hartsfield Bixler Demyer syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3660451013 - Hartsfield syndrome (en) View
3660451013	en	Synonym (core metadata concept)	Hartsfield syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3660454017 - Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (en) View
3660454017	en	Synonym (core metadata concept)	Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3660453011 - Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (disorder) (en) View
3660453011	en	Fully specified name (core metadata concept)	Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9289376022) - 766032007 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10601213022) - 766032007 -> 275348004 (116680003) View
116680003 \|Is a (attribute)\|	275348004 \|Adactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069942029) - 766032007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13182734026) - 766032007 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9289378023) - 766032007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10522961025) - 766032007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522962021) - 766032007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10538703023) - 766032007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9286970020) - 766032007 -> 1899006 (116680003) View
116680003 \|Is a (attribute)\|	1899006 \|Autosomal hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9286973022) - 766032007 -> 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 (9286974027) - 766032007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9286977023) - 766032007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9286978029) - 766032007 -> 30915001 (116680003) View
116680003 \|Is a (attribute)\|	30915001 \|Holoprosencephaly sequence (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9286979021) - 766032007 -> 81208006 (116680003) View
116680003 \|Is a (attribute)\|	81208006 \|Ectrodactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9289377029) - 766032007 -> 69536005 (363698007) View
363698007 \|Finding site (attribute)\|	69536005 \|Head structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9289379026) - 766032007 -> 361367007 (363698007) View
363698007 \|Finding site (attribute)\|	361367007 \|Entire digit (body structure)\|	2	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
1899006 View
1899006	Autosomal hereditary disorder (disorder)	Autosomal hereditary disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
30915001 View
30915001	Holoprosencephaly sequence (disorder)	Arhinencephaly	900000000000074008 \|Necessary but not sufficient concept 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
81208006 View
81208006	Ectrodactyly (disorder)	Ectrodactyly	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 (61db27d5-66df-5d28-9ea1-8882962ce943) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8 \| 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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