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Terminology chevron_right Concepts chevron_right 721835008

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Component

721835008

The component that hold information about this concept.

Fully Specified Name (FSN)

Acrofrontofacionasal dysostosis type 2 (disorder)

Shortest Term

Naguib richieri costa 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

Acrofrontofacionasal dysostosis type 2 (disorder)

SCTID: 721835008, Primitive, Active

721835008|Acrofrontofacionasal dysostosis type 2 (disorder)|

en Hypertelorism, hypospadias, polysyndactyly syndrome
en Acro-fronto-facio-nasal dysostosis type 2
en Acrofrontofacionasal dysostosis type 2
en Acrofrontofacionasal dysostosis type 2 (disorder)
en Naguib richieri costa syndrome

Expression

721835008 |Acrofrontofacionasal dysostosis type 2 (disorder)|
 <<< 287085006 |Genitourinary congenital anomalies (disorder)| + 
403855001 |Congenital anomaly of digit (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
767811005 |Lesion of face (disorder)| + 
23359005 |Multiple malformation syndrome with facial-limb defects as major feature (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
128219005 |Dysostosis of bone of skull (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
88631000119105 |Congenital dysplasia of limb (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (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)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89545001 |Face structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89546000 |Bone structure of cranium (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)| = 21514008 |Structure of genitourinary 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
3786773015 - Hypertelorism, hypospadias, polysyndactyly syndrome (en) View
3786773015	en	Synonym (core metadata concept)	Hypertelorism, hypospadias, polysyndactyly syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3326191019 - Acro-fronto-facio-nasal dysostosis type 2 (en) View
3326191019	en	Synonym (core metadata concept)	Acro-fronto-facio-nasal dysostosis type 2	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3326192014 - Acrofrontofacionasal dysostosis type 2 (en) View
3326192014	en	Synonym (core metadata concept)	Acrofrontofacionasal dysostosis type 2	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3326195011 - Acrofrontofacionasal dysostosis type 2 (disorder) (en) View
3326195011	en	Fully specified name (core metadata concept)	Acrofrontofacionasal dysostosis type 2 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3326193016 - Naguib Richieri Costa syndrome (en) View
3326193016	en	Synonym (core metadata concept)	Naguib Richieri Costa syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15681433028) - 721835008 -> 88631000119105 (116680003) View
116680003 \|Is a (attribute)\|	88631000119105 \|Congenital dysplasia of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069324025) - 721835008 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6762586023) - 721835008 -> 720408003 (116680003) View
116680003 \|Is a (attribute)\|	720408003 \|Acrofrontofacionasal dysostosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12091448027) - 721835008 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091449024) - 721835008 -> 767811005 (116680003) View
116680003 \|Is a (attribute)\|	767811005 \|Lesion of face (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091450024) - 721835008 -> 23359005 (116680003) View
116680003 \|Is a (attribute)\|	23359005 \|Multiple malformation syndrome with facial-limb defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091451023) - 721835008 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091452027) - 721835008 -> 128219005 (116680003) View
116680003 \|Is a (attribute)\|	128219005 \|Dysostosis of bone of skull (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526785025) - 721835008 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10526792024) - 721835008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10526794020) - 721835008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10539150026) - 721835008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10539152023) - 721835008 -> 89546000 (363698007) View
363698007 \|Finding site (attribute)\|	89546000 \|Bone structure of cranium (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10546321029) - 721835008 -> 89546000 (363698007) View
363698007 \|Finding site (attribute)\|	89546000 \|Bone structure of cranium (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10546322020) - 721835008 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11225028027) - 721835008 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11225029024) - 721835008 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11225030025) - 721835008 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11578071028) - 721835008 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11583055023) - 721835008 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6762587025) - 721835008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6762588024) - 721835008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6762591024) - 721835008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6762593022) - 721835008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6762594027) - 721835008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6762597023) - 721835008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6766166025) - 721835008 -> 89546000 (363698007) View
363698007 \|Finding site (attribute)\|	89546000 \|Bone structure of cranium (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6767574029) - 721835008 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6767944025) - 721835008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6767945029) - 721835008 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6781167029) - 721835008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6781168023) - 721835008 -> 21514008 (363698007) View
363698007 \|Finding site (attribute)\|	21514008 \|Structure of genitourinary system (body structure)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10526782027) - 721835008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526786029) - 721835008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526788028) - 721835008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526789020) - 721835008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526790027) - 721835008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526791028) - 721835008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526793025) - 721835008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526795021) - 721835008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549030026) - 721835008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549031027) - 721835008 -> 21514008 (363698007) View
363698007 \|Finding site (attribute)\|	21514008 \|Structure of genitourinary system (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6762584021) - 721835008 -> 287085006 (116680003) View
116680003 \|Is a (attribute)\|	287085006 \|Genitourinary congenital anomalies (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6762585022) - 721835008 -> 403855001 (116680003) View
116680003 \|Is a (attribute)\|	403855001 \|Congenital anomaly of digit (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
88631000119105 View
88631000119105	Congenital dysplasia of limb (disorder)	Congenital dysplasia of limb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128219005 View
128219005	Dysostosis of bone of skull (disorder)	Dysostosis of bone of skull	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
767811005 View
767811005	Lesion of face (disorder)	Facial lesion	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
403855001 View
403855001	Congenital anomaly of digit (disorder)	Perodactylia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
23359005 View
23359005	Multiple malformation syndrome with facial-limb defects as major feature (disorder)	Multiple malformation syndrome with facial-limb defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
287085006 View
287085006	Genitourinary congenital anomalies (disorder)	Congenital urogenital anomaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363212003 View
363212003	Hereditary disorder of musculoskeletal system (disorder)	Hereditary disorder of musculoskeletal system	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 (b37d5196-d397-52b7-a239-fd4ee29141f4) 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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