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Terminology chevron_right Concepts chevron_right 719468005

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Component

719468005

The component that hold information about this concept.

Fully Specified Name (FSN)

Cleft palate with stapes fixation and oligodontia syndrome (disorder)

Shortest Term

Cleft palate with stapes fixation and oligodontia 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

Cleft palate with stapes fixation and oligodontia syndrome (disorder)

SCTID: 719468005, Primitive, Active

719468005|Cleft palate with stapes fixation and oligodontia syndrome (disorder)|

en Cleft palate with stapes fixation and oligodontia syndrome
en Cleft palate with stapes fixation and oligodontia syndrome (disorder)

Expression

719468005 |Cleft palate with stapes fixation and oligodontia syndrome (disorder)|
 <<< 253997002 |Cleft of soft palate (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
362991006 |Auditory system hereditary disorder (disorder)| + 
787414001 |Oligodontia (disorder)| + 
234951001 |Developmental absence of tooth (disorder)| + 
54386000 |Congenital fusion of ossicles of ear (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 371520008 |Developmental failure of fusion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 49460000 |Soft palate 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)| = 245543004 |Dentition (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 1297033003 |Abnormally fused structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 22718006 |Stapes structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 1303291008 |Abnormal number (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 302214001 |Entire tooth (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
3316254018 - Cleft palate with stapes fixation and oligodontia syndrome (en) View
3316254018	en	Synonym (core metadata concept)	Cleft palate with stapes fixation and oligodontia syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3316253012 - Cleft palate with stapes fixation and oligodontia syndrome (disorder) (en) View
3316253012	en	Fully specified name (core metadata concept)	Cleft palate with stapes fixation and oligodontia syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (14911677025) - 719468005 -> 31883006 (116676008) View
116676008 \|Associated morphology (attribute)\|	31883006 \|Fused structure (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16436966020) - 719468005 -> 1297033003 (116676008) View
116676008 \|Associated morphology (attribute)\|	1297033003 \|Abnormally fused structure (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6628946025) - 719468005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519961025) - 719468005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10519970027) - 719468005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13054298022) - 719468005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13894331027) - 719468005 -> 38199008 (363698007) View
363698007 \|Finding site (attribute)\|	38199008 \|Tooth structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15888327025) - 719468005 -> 1303291008 (116676008) View
116676008 \|Associated morphology (attribute)\|	1303291008 \|Abnormal number (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16409821029) - 719468005 -> 302214001 (363698007) View
363698007 \|Finding site (attribute)\|	302214001 \|Entire tooth (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16409822020) - 719468005 -> 1303291008 (116676008) View
116676008 \|Associated morphology (attribute)\|	1303291008 \|Abnormal number (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13894303020) - 719468005 -> 61295008 (116676008) View
116676008 \|Associated morphology (attribute)\|	61295008 \|Congenital abnormal number (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6636576029) - 719468005 -> 37764001 (116676008) View
116676008 \|Associated morphology (attribute)\|	37764001 \|Congenital abnormal fusion (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6628932025) - 719468005 -> 64969001 (116680003) View
116680003 \|Is a (attribute)\|	64969001 \|Partial congenital absence of teeth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6628936027) - 719468005 -> 109443007 (116680003) View
116680003 \|Is a (attribute)\|	109443007 \|Anodontia of primary dentition (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10538366026) - 719468005 -> 245612004 (363698007) View
363698007 \|Finding site (attribute)\|	245612004 \|Entire deciduous tooth (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10548620027) - 719468005 -> 245612004 (363698007) View
363698007 \|Finding site (attribute)\|	245612004 \|Entire deciduous tooth (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10548621028) - 719468005 -> 61295008 (116676008) View
116676008 \|Associated morphology (attribute)\|	61295008 \|Congenital abnormal number (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13180399026) - 719468005 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13884208028) - 719468005 -> 234951001 (116680003) View
116680003 \|Is a (attribute)\|	234951001 \|Developmental absence of tooth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13894304025) - 719468005 -> 245543004 (363698007) View
363698007 \|Finding site (attribute)\|	245543004 \|Dentition (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13894305029) - 719468005 -> 418560003 (116676008) View
116676008 \|Associated morphology (attribute)\|	418560003 \|Absence (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13894512021) - 719468005 -> 787414001 (116680003) View
116680003 \|Is a (attribute)\|	787414001 \|Oligodontia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13054296021) - 719468005 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13054297028) - 719468005 -> 371520008 (116676008) View
116676008 \|Associated morphology (attribute)\|	371520008 \|Developmental failure of fusion (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13054299025) - 719468005 -> 272679001 (363698007) View
363698007 \|Finding site (attribute)\|	272679001 \|Bone structure of head (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10538367024) - 719468005 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11192018024) - 719468005 -> 249390006 (116680003) View
116680003 \|Is a (attribute)\|	249390006 \|Palate finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6584704027) - 719468005 -> 61295008 (116676008) View
116676008 \|Associated morphology (attribute)\|	61295008 \|Congenital abnormal number (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6584705026) - 719468005 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6628947023) - 719468005 -> 245612004 (363698007) View
363698007 \|Finding site (attribute)\|	245612004 \|Entire deciduous tooth (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6628952029) - 719468005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6630358027) - 719468005 -> 245612004 (363698007) View
363698007 \|Finding site (attribute)\|	245612004 \|Entire deciduous tooth (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10519963027) - 719468005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519966024) - 719468005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519967026) - 719468005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519972024) - 719468005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6628929028) - 719468005 -> 11223009 (116680003) View
116680003 \|Is a (attribute)\|	11223009 \|Congenital anomaly of pharynx (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6628930022) - 719468005 -> 41188003 (116680003) View
116680003 \|Is a (attribute)\|	41188003 \|Disorder of oral soft tissues (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6628935028) - 719468005 -> 87979003 (116680003) View
116680003 \|Is a (attribute)\|	87979003 \|Cleft palate (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6628937020) - 719468005 -> 123952009 (116680003) View
116680003 \|Is a (attribute)\|	123952009 \|Disorder of nasopharynx (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6628938026) - 719468005 -> 126661001 (116680003) View
116680003 \|Is a (attribute)\|	126661001 \|Disorder of oropharynx (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6628940020) - 719468005 -> 282040001 (116680003) View
116680003 \|Is a (attribute)\|	282040001 \|Congenital abnormality of nose and nasopharynx (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9086047027) - 719468005 -> 253997002 (116680003) View
116680003 \|Is a (attribute)\|	253997002 \|Cleft of soft palate (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6628949021) - 719468005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6631061028) - 719468005 -> 4541003 (116676008) View
116676008 \|Associated morphology (attribute)\|	4541003 \|Congenital failure of fusion (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6631062024) - 719468005 -> 49460000 (363698007) View
363698007 \|Finding site (attribute)\|	49460000 \|Soft palate structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6940184027) - 719468005 -> 371520008 (116676008) View
116676008 \|Associated morphology (attribute)\|	371520008 \|Developmental failure of fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6940185026) - 719468005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6940186025) - 719468005 -> 49460000 (363698007) View
363698007 \|Finding site (attribute)\|	49460000 \|Soft palate structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6628931021) - 719468005 -> 54386000 (116680003) View
116680003 \|Is a (attribute)\|	54386000 \|Congenital fusion of ossicles of ear (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6628933024) - 719468005 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6628934029) - 719468005 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6628941024) - 719468005 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6628943022) - 719468005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6636577022) - 719468005 -> 22718006 (363698007) View
363698007 \|Finding site (attribute)\|	22718006 \|Stapes structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
234951001 View
234951001	Developmental absence of tooth (disorder)	Developmental absence of tooth	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
787414001 View
787414001	Oligodontia (disorder)	Oligodontia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
253997002 View
253997002	Cleft of soft palate (disorder)	Cleft of soft palate	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
54386000 View
54386000	Congenital fusion of ossicles of ear (disorder)	Congenital fusion of ear ossicles	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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
362991006 View
362991006	Auditory system hereditary disorder (disorder)	Auditory system hereditary disorder	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 (caf2c15c-98aa-559d-a22d-79684ed22d21) 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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