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Component

81771002

The component that hold information about this concept.

Fully Specified Name (FSN)

Opitz-frias syndrome (disorder)

Shortest Term

G 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

Opitz-frias syndrome (disorder)

SCTID: 81771002, Primitive, Active

81771002|Opitz-frias syndrome (disorder)|

vi Hội chứng opitz-frias
vi Hội chứng opitz-frias (rối loạn di truyền đặc trưng bởi dị tật sọ mặt, lồi mắt, sứt môi và vòm miệng, các nếp gấp ở đầu và sống mũi rộng, phẳng)
en Hypertelorism-hypospadias syndrome
en Opitz-frias syndrome (disorder)
en Congenital cleft larynx and opitz-frias syndrome
en G syndrome
en Opitz-frias syndrome
en Opitz's (j.m.) syndrome
en Opitz syndrome

Expression

81771002 |Opitz-frias syndrome (disorder)|
 <<< 363290007 |Reproductive system hereditary disorder (disorder)| + 
363338001 |Hereditary disorder of the urinary system (disorder)| + 
77701002 |Multiple malformation syndrome, moderate short stature, facial (disorder)| + 
82852009 |Sex-linked hereditary disorder (disorder)| + 
232461002 |Congenital cleft larynx (disorder)| + 
204888000 |Hypospadias, penile (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 12923000 |Structure of urethral aspect of penis (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 408737001 |Malposition (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 279478000 |Male external urethral orifice (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)| = 4596009 |Laryngeal 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
527001000003111 - hội chứng Opitz-Frias (vi) View
527001000003111	vi	Synonym (core metadata concept)	hội chứng Opitz-Frias	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	None	True
3471000269118 - hội chứng Opitz-Frias (Rối loạn di truyền đặc trưng bởi dị tật sọ mặt, lồi mắt, sứt môi và vòm miệng, các nếp gấp ở đầu và sống mũi rộng, phẳng) (vi) View
3471000269118	vi	Synonym (core metadata concept)	hội chứng Opitz-Frias (Rối loạn di truyền đặc trưng bởi dị tật sọ mặt, lồi mắt, sứt môi và vòm miệng, các nếp gấp ở đầu và sống mũi rộng, phẳng)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	None	True
135643013 - Hypertelorism-hypospadias syndrome (en) View
135643013	en	Synonym (core metadata concept)	Hypertelorism-hypospadias syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
823079018 - Opitz-Frias syndrome (disorder) (en) View
823079018	en	Fully specified name (core metadata concept)	Opitz-Frias syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
504790015 - Congenital cleft larynx and Opitz-Frias syndrome (en) View
504790015	en	Synonym (core metadata concept)	Congenital cleft larynx and Opitz-Frias syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
135644019 - G syndrome (en) View
135644019	en	Synonym (core metadata concept)	G syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
135641010 - Opitz-Frias syndrome (en) View
135641010	en	Synonym (core metadata concept)	Opitz-Frias syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
135645018 - Opitz's (J.M.) syndrome (en) View
135645018	en	Synonym (core metadata concept)	Opitz's (J.M.) syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
135642015 - Opitz syndrome (en) View
135642015	en	Synonym (core metadata concept)	Opitz syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13068923024) - 81771002 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5020094025) - 81771002 -> 70318002 (116680003) View
116680003 \|Is a (attribute)\|	70318002 \|Congenital anomaly of penis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6039449020) - 81771002 -> 249302009 (116680003) View
116680003 \|Is a (attribute)\|	249302009 \|Urethral meatus finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6039450020) - 81771002 -> 13806003 (116680003) View
116680003 \|Is a (attribute)\|	13806003 \|Congenital anomaly of urethra (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10539767025) - 81771002 -> 87528003 (363698007) View
363698007 \|Finding site (attribute)\|	87528003 \|Structure of urethral meatus (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10539768024) - 81771002 -> 60115006 (116676008) View
116676008 \|Associated morphology (attribute)\|	60115006 \|Congenital malposition (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11280824021) - 81771002 -> 204888000 (116680003) View
116680003 \|Is a (attribute)\|	204888000 \|Hypospadias, penile (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11280825022) - 81771002 -> 279478000 (363698007) View
363698007 \|Finding site (attribute)\|	279478000 \|Male external urethral orifice (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11309045021) - 81771002 -> 408737001 (116676008) View
116676008 \|Associated morphology (attribute)\|	408737001 \|Malposition (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (878455023) - 81771002 -> 4596009 (363698007) View
363698007 \|Finding site (attribute)\|	4596009 \|Laryngeal structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2512990022) - 81771002 -> 12923000 (363698007) View
363698007 \|Finding site (attribute)\|	12923000 \|Structure of urethral aspect of penis (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4979441024) - 81771002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4989400021) - 81771002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4989401020) - 81771002 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5020096028) - 81771002 -> 12923000 (363698007) View
363698007 \|Finding site (attribute)\|	12923000 \|Structure of urethral aspect of penis (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5022488022) - 81771002 -> 60115006 (116676008) View
116676008 \|Associated morphology (attribute)\|	60115006 \|Congenital malposition (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5022489025) - 81771002 -> 87528003 (363698007) View
363698007 \|Finding site (attribute)\|	87528003 \|Structure of urethral meatus (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6088933024) - 81771002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6939637024) - 81771002 -> 371520008 (116676008) View
116676008 \|Associated morphology (attribute)\|	371520008 \|Developmental failure of fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6939639022) - 81771002 -> 4596009 (363698007) View
363698007 \|Finding site (attribute)\|	4596009 \|Laryngeal structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10531765020) - 81771002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531766021) - 81771002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531767028) - 81771002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531768022) - 81771002 -> 371520008 (116676008) View
116676008 \|Associated morphology (attribute)\|	371520008 \|Developmental failure of fusion (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531769025) - 81771002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539769027) - 81771002 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4996149024) - 81771002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4996151023) - 81771002 -> 4596009 (363698007) View
363698007 \|Finding site (attribute)\|	4596009 \|Laryngeal structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5024727025) - 81771002 -> 4541003 (116676008) View
116676008 \|Associated morphology (attribute)\|	4541003 \|Congenital failure of fusion (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6939638025) - 81771002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2772203020) - 81771002 -> 416010008 (116680003) View
116680003 \|Is a (attribute)\|	416010008 \|Hypospadias (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (878459028) - 81771002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2270378029) - 81771002 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2737959024) - 81771002 -> 13648007 (363698007) View
363698007 \|Finding site (attribute)\|	13648007 \|Urethral structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3183558027) - 81771002 -> 204821009 (116680003) View
116680003 \|Is a (attribute)\|	204821009 \|Congenital malformation of genital organs (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3212980020) - 81771002 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3572493026) - 81771002 -> 275260000 (116680003) View
116680003 \|Is a (attribute)\|	275260000 \|Congenital malformation of the respiratory system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3596365022) - 81771002 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3596366023) - 81771002 -> 4596009 (363698007) View
363698007 \|Finding site (attribute)\|	4596009 \|Laryngeal structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4739039022) - 81771002 -> 33958003 (116680003) View
116680003 \|Is a (attribute)\|	33958003 \|Disorder of penis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4739040024) - 81771002 -> 126763008 (116680003) View
116680003 \|Is a (attribute)\|	126763008 \|Congenital anomaly of perineum (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4739041023) - 81771002 -> 428522008 (116680003) View
116680003 \|Is a (attribute)\|	428522008 \|Congenital anomaly of male urogenital tract (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3176394026) - 81771002 -> 70318002 (116680003) View
116680003 \|Is a (attribute)\|	70318002 \|Congenital anomaly of penis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1779774027) - 81771002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2551504027) - 81771002 -> 70318002 (116680003) View
116680003 \|Is a (attribute)\|	70318002 \|Congenital anomaly of penis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2551505026) - 81771002 -> 408675006 (116680003) View
116680003 \|Is a (attribute)\|	408675006 \|Hypospadias (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (878451025) - 81771002 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (878457026) - 81771002 -> 12923000 (363698007) View
363698007 \|Finding site (attribute)\|	12923000 \|Structure of urethral aspect of penis (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2602315025) - 81771002 -> 25182001 (363698007) View
363698007 \|Finding site (attribute)\|	25182001 \|Female urethral structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (280901028) - 81771002 -> 13115008 (116680003) View
116680003 \|Is a (attribute)\|	13115008 \|Hypospadias (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (878456024) - 81771002 -> 90264002 (363698007) View
363698007 \|Finding site (attribute)\|	90264002 \|Male genital structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (878460022) - 81771002 -> 82841003 (363698007) View
363698007 \|Finding site (attribute)\|	82841003 \|Male urethral structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2270376025) - 81771002 -> 128181006 (363698007) View
363698007 \|Finding site (attribute)\|	128181006 \|Entire genital organ (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2270377023) - 81771002 -> 18911002 (363698007) View
363698007 \|Finding site (attribute)\|	18911002 \|Penile structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2442639023) - 81771002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2207992024) - 81771002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1779775026) - 81771002 -> 71934003 (363698007) View
363698007 \|Finding site (attribute)\|	71934003 \|Genital structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (878452021) - 81771002 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (878458020) - 81771002 -> 211384000 (260908002) View
260908002 \|Course (attribute)\|	211384000 \|Multiple superficial injuries of lower leg (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (878463024) - 81771002 -> 128181006 (363698007) View
363698007 \|Finding site (attribute)\|	128181006 \|Entire genital organ (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (280902024) - 81771002 -> 363290007 (116680003) View
116680003 \|Is a (attribute)\|	363290007 \|Reproductive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (280903025) - 81771002 -> 363338001 (116680003) View
116680003 \|Is a (attribute)\|	363338001 \|Hereditary disorder of the urinary system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (280904020) - 81771002 -> 77701002 (116680003) View
116680003 \|Is a (attribute)\|	77701002 \|Multiple malformation syndrome, moderate short stature, facial (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (280905021) - 81771002 -> 82852009 (116680003) View
116680003 \|Is a (attribute)\|	82852009 \|Sex-linked hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (280906022) - 81771002 -> 232461002 (116680003) View
116680003 \|Is a (attribute)\|	232461002 \|Congenital cleft larynx (disorder)\|	0	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
204888000 View
204888000	Hypospadias, penile (disorder)	Penile hypospadias	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
232461002 View
232461002	Congenital cleft larynx (disorder)	Congenital cleft larynx	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
77701002 View
77701002	Multiple malformation syndrome, moderate short stature, facial (disorder)	Multiple malformation syndrome, moderate short stature, facial	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
82852009 View
82852009	Sex-linked hereditary disorder (disorder)	Sex-linked hereditary disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363290007 View
363290007	Reproductive system hereditary disorder (disorder)	Reproductive system hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363338001 View
363338001	Hereditary disorder of the urinary system (disorder)	Hereditary disorder of the urinary 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 (3a4125b4-dd48-5e77-aa9c-8592a90779bb) 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)\|

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