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Terminology chevron_right Concepts chevron_right 720498007

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Component

720498007

The component that hold information about this concept.

Fully Specified Name (FSN)

Aphalangy and syndactyly with microcephaly syndrome (disorder)

Shortest Term

Aphalangy and syndactyly with microcephaly 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

Aphalangy and syndactyly with microcephaly syndrome (disorder)

SCTID: 720498007, Primitive, Active

720498007|Aphalangy and syndactyly with microcephaly syndrome (disorder)|

en Aphalangy and syndactyly with microcephaly syndrome
en Aphalangy and syndactyly with microcephaly syndrome (disorder)

Expression

720498007 |Aphalangy and syndactyly with microcephaly syndrome (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
275348004 |Adactyly (disorder)| + 
373413006 |Syndactyly (disorder)| + 
1148758003 |Congenital microcephaly (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 1297033003 |Abnormally fused structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 82680008 |Digit 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)| = 82680008 |Digit structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 1303834006 |Abnormal smallness (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)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 169876006 |Birth head circumference (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3321033015 - Aphalangy and syndactyly with microcephaly syndrome (en) View
3321033015	en	Synonym (core metadata concept)	Aphalangy and syndactyly with microcephaly syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3321032013 - Aphalangy and syndactyly with microcephaly syndrome (disorder) (en) View
3321032013	en	Fully specified name (core metadata concept)	Aphalangy and syndactyly with microcephaly syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6578144025) - 720498007 -> 41086002 (116676008) View
116676008 \|Associated morphology (attribute)\|	41086002 \|Congenital smallness (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15898875028) - 720498007 -> 1303834006 (116676008) View
116676008 \|Associated morphology (attribute)\|	1303834006 \|Abnormal smallness (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539502020) - 720498007 -> 37764001 (116676008) View
116676008 \|Associated morphology (attribute)\|	37764001 \|Congenital abnormal fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15840351024) - 720498007 -> 1297033003 (116676008) View
116676008 \|Associated morphology (attribute)\|	1297033003 \|Abnormally fused structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6578256020) - 720498007 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6683700025) - 720498007 -> 1829003 (116680003) View
116680003 \|Is a (attribute)\|	1829003 \|Microcephalus (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6683703028) - 720498007 -> 57148006 (116680003) View
116680003 \|Is a (attribute)\|	57148006 \|Congenital anomaly of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6683705024) - 720498007 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13719311023) - 720498007 -> 1148758003 (116680003) View
116680003 \|Is a (attribute)\|	1148758003 \|Congenital microcephaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13719312027) - 720498007 -> 69536005 (363698007) View
363698007 \|Finding site (attribute)\|	69536005 \|Head structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13719313021) - 720498007 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13719314026) - 720498007 -> 169876006 (363714003) View
363714003 \|Interprets (attribute)\|	169876006 \|Birth head circumference (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539501029) - 720498007 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069227024) - 720498007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13185244020) - 720498007 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6683709029) - 720498007 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6683711022) - 720498007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6683712026) - 720498007 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6683713020) - 720498007 -> 41086002 (116676008) View
116676008 \|Associated morphology (attribute)\|	41086002 \|Congenital smallness (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6683714025) - 720498007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6683715029) - 720498007 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6685611027) - 720498007 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6685612023) - 720498007 -> 37764001 (116676008) View
116676008 \|Associated morphology (attribute)\|	37764001 \|Congenital abnormal fusion (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10529702028) - 720498007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10529705026) - 720498007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10529707023) - 720498007 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10529708029) - 720498007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10529709021) - 720498007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10529710027) - 720498007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539503026) - 720498007 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6683701026) - 720498007 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6683702022) - 720498007 -> 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 (6683704023) - 720498007 -> 275348004 (116680003) View
116680003 \|Is a (attribute)\|	275348004 \|Adactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6683706020) - 720498007 -> 373413006 (116680003) View
116680003 \|Is a (attribute)\|	373413006 \|Syndactyly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6683708021) - 720498007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1148758003 View
1148758003	Congenital microcephaly (disorder)	Congenital microcephaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
275348004 View
275348004	Adactyly (disorder)	Adactyly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
373413006 View
373413006	Syndactyly (disorder)	Syndactyly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	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

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 (36889145-1460-5354-b28e-13dc1b0fa804) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.2	TRUE	ALWAYS Q87.2 \| 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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