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Terminology chevron_right Concepts chevron_right 763863002

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Component

763863002

The component that hold information about this concept.

Fully Specified Name (FSN)

Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)

Shortest Term

Zori stalker williams 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

Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)

SCTID: 763863002, Primitive, Active

763863002|Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)|

en Pectus excavatum, macrocephaly, dysplastic nails syndrome
en Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)
en Zori stalker williams syndrome

Expression

763863002 |Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)|
 <<< 82354003 |Multiple system malformation syndrome (disorder)| + 
237836003 |Short stature disorder (disorder)| + 
391982004 |Congenital pectus excavatum (disorder)| + 
1145402008 |Congenital macrocephaly (disorder)| + 
1142193008 |Congenital dysplasia of nail unit (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 1287378005 |Depression deformity (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 56873002 |Bone structure of sternum (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 442021009 |Enlargement (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)| = 46360000 |Abnormal curvature (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 113197003 |Bone structure of rib (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)| = 770802007 |Nail unit structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 363812007 |Head circumference (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3644791011 - Pectus excavatum, macrocephaly, dysplastic nails syndrome (en) View
3644791011	en	Synonym (core metadata concept)	Pectus excavatum, macrocephaly, dysplastic nails syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3644790012 - Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder) (en) View
3644790012	en	Fully specified name (core metadata concept)	Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3644789015 - Zori Stalker Williams syndrome (en) View
3644789015	en	Synonym (core metadata concept)	Zori Stalker Williams syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9159836027) - 763863002 -> 35964007 (116680003) View
116680003 \|Is a (attribute)\|	35964007 \|Congenital anomaly of nail (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15458174027) - 763863002 -> 95324001 (116680003) View
116680003 \|Is a (attribute)\|	95324001 \|Skin lesion (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15681407020) - 763863002 -> 88631000119105 (116680003) View
116680003 \|Is a (attribute)\|	88631000119105 \|Congenital dysplasia of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16347404020) - 763863002 -> 1142193008 (116680003) View
116680003 \|Is a (attribute)\|	1142193008 \|Congenital dysplasia of nail unit (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9239583028) - 763863002 -> 113197003 (363698007) View
363698007 \|Finding site (attribute)\|	113197003 \|Bone structure of rib (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9239584023) - 763863002 -> 56873002 (363698007) View
363698007 \|Finding site (attribute)\|	56873002 \|Bone structure of sternum (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11105553028) - 763863002 -> 6081001 (116676008) View
116676008 \|Associated morphology (attribute)\|	6081001 \|Deformity (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11105554023) - 763863002 -> 6081001 (116676008) View
116676008 \|Associated morphology (attribute)\|	6081001 \|Deformity (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15707769028) - 763863002 -> 1287378005 (116676008) View
116676008 \|Associated morphology (attribute)\|	1287378005 \|Depression deformity (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15708948023) - 763863002 -> 56873002 (363698007) View
363698007 \|Finding site (attribute)\|	56873002 \|Bone structure of sternum (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15708958022) - 763863002 -> 113197003 (363698007) View
363698007 \|Finding site (attribute)\|	113197003 \|Bone structure of rib (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15708959025) - 763863002 -> 46360000 (116676008) View
116676008 \|Associated morphology (attribute)\|	46360000 \|Abnormal curvature (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9159835028) - 763863002 -> 19410003 (116680003) View
116680003 \|Is a (attribute)\|	19410003 \|Macrocephaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9265502021) - 763863002 -> 302548004 (363698007) View
363698007 \|Finding site (attribute)\|	302548004 \|Entire head (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13692399027) - 763863002 -> 363812007 (363714003) View
363714003 \|Interprets (attribute)\|	363812007 \|Head circumference (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13692400023) - 763863002 -> 69536005 (363698007) View
363698007 \|Finding site (attribute)\|	69536005 \|Head structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13692401022) - 763863002 -> 1145402008 (116680003) View
116680003 \|Is a (attribute)\|	1145402008 \|Congenital macrocephaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13692402026) - 763863002 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280611023) - 763863002 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11105551026) - 763863002 -> 87290003 (116680003) View
116680003 \|Is a (attribute)\|	87290003 \|Congenital anomaly of head (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9161248021) - 763863002 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9161249029) - 763863002 -> 72651009 (363698007) View
363698007 \|Finding site (attribute)\|	72651009 \|Nail structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9224314021) - 763863002 -> 385297003 (116676008) View
116676008 \|Associated morphology (attribute)\|	385297003 \|Congenital deformity (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9224320022) - 763863002 -> 385297003 (116676008) View
116676008 \|Associated morphology (attribute)\|	385297003 \|Congenital deformity (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9238306029) - 763863002 -> 56873002 (363698007) View
363698007 \|Finding site (attribute)\|	56873002 \|Bone structure of sternum (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9241232025) - 763863002 -> 302548004 (363698007) View
363698007 \|Finding site (attribute)\|	302548004 \|Entire head (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9241233024) - 763863002 -> 441880008 (116676008) View
116676008 \|Associated morphology (attribute)\|	441880008 \|Congenital enlargement (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10517251024) - 763863002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517252028) - 763863002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517253022) - 763863002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517254027) - 763863002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11105552022) - 763863002 -> 442021009 (116676008) View
116676008 \|Associated morphology (attribute)\|	442021009 \|Enlargement (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11105555024) - 763863002 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11192738027) - 763863002 -> 770802007 (363698007) View
363698007 \|Finding site (attribute)\|	770802007 \|Nail unit structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9159837020) - 763863002 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9159838026) - 763863002 -> 237836003 (116680003) View
116680003 \|Is a (attribute)\|	237836003 \|Short stature disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9159839023) - 763863002 -> 391982004 (116680003) View
116680003 \|Is a (attribute)\|	391982004 \|Congenital pectus excavatum (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9159841024) - 763863002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224312020) - 763863002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224315022) - 763863002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224319027) - 763863002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1142193008 View
1142193008	Congenital dysplasia of nail unit (disorder)	Congenital dysplasia of nail unit	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1145402008 View
1145402008	Congenital macrocephaly (disorder)	Congenital macrocephaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
391982004 View
391982004	Congenital pectus excavatum (disorder)	Funnel chest	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237836003 View
237836003	Short stature disorder (disorder)	Dwarf	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 (00bd9206-84e7-5449-9092-1c8fe83b88dd) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8	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)\|
ExtendedMap object (8b132adb-c6ba-59ca-b7a5-2cd3e468d61f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.5	TRUE	ALWAYS Q87.5 \| 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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