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Terminology chevron_right Concepts chevron_right 398302004

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Component

398302004

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital anomaly of face (disorder)

Shortest Term

Facial dysmorphism

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Congenital anomaly of face (disorder)

SCTID: 398302004, Defined, Active

398302004|Congenital anomaly of face (disorder)|

en Congenital anomaly of face
en Congenital anomaly of face (disorder)
en Facial dysmorphism
en Facial malformation

Expression

398302004 |Congenital anomaly of face (disorder)|
 === 87290003 |Congenital anomaly of head (disorder)| + 
118930001 |Disorder of face (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
1777842010 - Congenital anomaly of face (en) View
1777842010	en	Synonym (core metadata concept)	Congenital anomaly of face	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1766221014 - Congenital anomaly of face (disorder) (en) View
1766221014	en	Fully specified name (core metadata concept)	Congenital anomaly of face (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1786205012 - Facial dysmorphism (en) View
1786205012	en	Synonym (core metadata concept)	Facial dysmorphism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1786204011 - Facial malformation (en) View
1786204011	en	Synonym (core metadata concept)	Facial malformation	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3295955021) - 398302004 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4974761025) - 398302004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4974762021) - 398302004 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4997474020) - 398302004 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6146487029) - 398302004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522269023) - 398302004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522270024) - 398302004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2282153024) - 398302004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3295956022) - 398302004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2282154029) - 398302004 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2282155028) - 398302004 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2243417024) - 398302004 -> 204223000 (116680003) View
116680003 \|Is a (attribute)\|	204223000 \|Ear, face and neck congenital anomalies (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2243416026) - 398302004 -> 87290003 (116680003) View
116680003 \|Is a (attribute)\|	87290003 \|Congenital anomaly of head (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2243418025) - 398302004 -> 118930001 (116680003) View
116680003 \|Is a (attribute)\|	118930001 \|Disorder of face (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
87290003 View
87290003	Congenital anomaly of head (disorder)	Congenital anomaly of head	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
118930001 View
118930001	Disorder of face (disorder)	Disease of face	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
205771006 View
205771006	Craniopagus frontalis (disorder)	Craniopagus frontalis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1145312002 View
1145312002	Congenital hypoplasia of middle third of face (disorder)	Midface retrusion	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1144875009 View
1144875009	Aplasia of parotid gland (disorder)	Aplasia of parotid gland	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1345054009 View
1345054009	Congenital unilateral hypoplasia of depressor anguli oris (disorder)	Isolated asymmetric crying facies	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1251402007 View
1251402007	Congenital infiltrating lipomatosis of face (disorder)	Congenital infiltrating lipomatosis of face	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
445486004 View
445486004	Congenital malformation of blood vessel of orbit proper (disorder)	Congenital anomaly of blood vessel of orbit proper	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
782722002 View
782722002	Global developmental delay, lung cysts, overgrowth, wilms tumor syndrome (disorder)	Glow syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
90516007 View
90516007	Naso-labial cyst (disorder)	Nasolabial cyst	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
763215008 View
763215008	Congenital ankylosis of temporomandibular joint (disorder)	Congenital trismus	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
62192003 View
62192003	Diprosopus (disorder)	Diprosopus	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
723444009 View
723444009	Noonan syndrome-like disorder with loose anagen hair (disorder)	Tosti syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
683221000119107 View
683221000119107	Congenital melanocytic nevus of skin of face (disorder)	Congenital melanocytic nevus of face	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1955003 View
1955003	Preauricular dimple (disorder)	Preauricular pit	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
716023007 View
716023007	Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Macdermot winter syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
109413005 View
109413005	Fronto-malar faciosynostosis (disorder)	Frontozygomatic synostosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
204217005 View
204217005	Hypoplasia of eye muscle (disorder)	Hypoplasia of eye muscle	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
204223000 View
204223000	Ear, face and neck congenital anomalies (disorder)	Ear, face and neck congenital anomalies	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
253750008 View
253750008	Congenital malformation of tongue, mouth and pharynx (disorder)	Dị tật bẩm sinh của lưỡi, miệng và họng	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
703265006 View
703265006	Arteriovenous malformation of face (disorder)	Arteriovenous malformation of face	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
112751000119103 View
112751000119103	Congenital superior sulcus anomaly of orbit (disorder)	Congenital superior sulcus anomaly of orbit	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
253236002 View
253236002	Congenital malformation of vitreous humor (disorder)	Congenital anomaly of vitreous body	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
85697009 View
85697009	Accessory eye muscle (disorder)	Accessory eye muscle	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
204272007 View
204272007	Preauricular fistula (disorder)	Rò trước tai	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128274005 View
128274005	Congenital anomaly of nose (disorder)	Congenital anomaly of nose	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
48607003 View
48607003	Accessory parotid gland (disorder)	Accessory parotid gland	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
253206006 View
253206006	Congenital malformation of the eyebrow (disorder)	Congenital anomaly of the eyebrow	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
398206004 View
398206004	Congenital deformity of face (disorder)	Congenital deformity of face	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
18820007 View
18820007	Preauricular cyst (disorder)	Preauricular cyst	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
8569001 View
8569001	Syncephalus (disorder)	Syncephalus	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
24814002 View
24814002	Potter's facies (disorder)	Potter facies	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
32003007 View
32003007	Congenital anomaly of face bones (disorder)	Face congenital deformities	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
33990008 View
33990008	Ectopic parotid gland tissue (disorder)	Ectopic parotid gland tissue	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
40159009 View
40159009	Congenital macrostomia (disorder)	Macrostomia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
42432003 View
42432003	Oto-palato-digital syndrome, type ii (disorder)	Otopalatodigital syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
54036001 View
54036001	Oto-palato-digital syndrome, type i (disorder)	Taybi syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
65094009 View
65094009	Multiple malformation syndrome with facial defects as major feature (disorder)	Multiple malformation syndrome with facial defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
77097004 View
77097004	Oculopharyngeal muscular dystrophy (disorder)	Oculopharyngeal dystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
91158006 View
91158006	Congenital anomaly of eyelid (disorder)	Congenital eyelid deformity	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
95489009 View
95489009	Congenital conjunctival cyst (disorder)	Congenital conjunctival cyst	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
109407001 View
109407001	Internasal dysostosis (disorder)	Internasal dysostosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
109549008 View
109549008	Congenital anomaly of lip (disorder)	Congenital anomaly of lip	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
109561000 View
109561000	Cerebrofacial dysplasia (disorder)	Cerebrofacial dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
232112009 View
232112009	Strabismus fixus (disorder)	Strabismus fixus	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
312214005 View
312214005	Floating-harbor syndrome (disorder)	Floating-harbor syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (3983496c-36bd-51bb-b47d-428cdd104eff) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q18.9	TRUE	ALWAYS Q18.9	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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