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Terminology chevron_right Concepts chevron_right 723442008

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Component

723442008

The component that hold information about this concept.

Fully Specified Name (FSN)

Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder)

Shortest Term

Stoelinga de koomen davis 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

Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder)

SCTID: 723442008, Primitive, Active

723442008|Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder)|

en Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome
en Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder)
en Stoelinga de koomen davis syndrome

Expression

723442008 |Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder)|
 <<< 23359005 |Multiple malformation syndrome with facial-limb defects as major feature (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
89689008 |Congenital genu valgum (disorder)| + 
109542004 |Failure of tooth eruption (disorder)| + 
237513002 |Congenital anomaly of bone and joint (disorder)| + 
282038006 |Congenital abnormality of external ear (disorder)| + 
362991006 |Auditory system hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
95473006 |Congenital anomaly of jaw (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
32003007 |Congenital anomaly of face bones (disorder)| + 
1148766007 |Hereditary disorder of tooth (disorder)| + 
300233000 |Finding of dentition (finding)| + 
42357009 |Disorder of digestive system specific to fetus or newborn (disorder)| + 
896922007 |Structural abnormality of bone structure of jaw (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 127561000 |Valgus deformity (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 49076000 |Knee joint structure (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)| = 28347008 |External ear structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 55199003 |Hypoplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 392081006 |Bone structure of jaw (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 245543004 |Dentition (body structure)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 364113008 |Eruption of tooth (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3424632014 - Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (en) View
3424632014	en	Synonym (core metadata concept)	Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3424631019 - Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) (en) View
3424631019	en	Fully specified name (core metadata concept)	Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3424630018 - Stoelinga de Koomen Davis syndrome (en) View
3424630018	en	Synonym (core metadata concept)	Stoelinga de Koomen Davis syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16379370029) - 723442008 -> 896922007 (116680003) View
116680003 \|Is a (attribute)\|	896922007 \|Structural abnormality of bone structure of jaw (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818152028) - 723442008 -> 254026007 (116680003) View
116680003 \|Is a (attribute)\|	254026007 \|Craniofacial microsomia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15880917028) - 723442008 -> 42357009 (116680003) View
116680003 \|Is a (attribute)\|	42357009 \|Disorder of digestive system specific to fetus or newborn (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15706373020) - 723442008 -> 364113008 (363714003) View
363714003 \|Interprets (attribute)\|	364113008 \|Eruption of tooth (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15706374025) - 723442008 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818158029) - 723442008 -> 422977003 (116680003) View
116680003 \|Is a (attribute)\|	422977003 \|Congenital anomaly of tooth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6818160027) - 723442008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6818161028) - 723442008 -> 38199008 (363698007) View
363698007 \|Finding site (attribute)\|	38199008 \|Tooth structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10539469028) - 723442008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11538887021) - 723442008 -> 95473006 (116680003) View
116680003 \|Is a (attribute)\|	95473006 \|Congenital anomaly of jaw (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14905818026) - 723442008 -> 300233000 (116680003) View
116680003 \|Is a (attribute)\|	300233000 \|Finding of dentition (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14905819023) - 723442008 -> 245543004 (363698007) View
363698007 \|Finding site (attribute)\|	245543004 \|Dentition (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818156025) - 723442008 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6818163025) - 723442008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12730349023) - 723442008 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12730350023) - 723442008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12730351022) - 723442008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13673508029) - 723442008 -> 32003007 (116680003) View
116680003 \|Is a (attribute)\|	32003007 \|Congenital anomaly of face bones (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13717806024) - 723442008 -> 1148766007 (116680003) View
116680003 \|Is a (attribute)\|	1148766007 \|Hereditary disorder of tooth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12730213024) - 723442008 -> 268239009 (116680003) View
116680003 \|Is a (attribute)\|	268239009 \|Congenital abnormality of skull and face bones (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069423021) - 723442008 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818155026) - 723442008 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6818159021) - 723442008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6818165021) - 723442008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6818166022) - 723442008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6818169026) - 723442008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6820074020) - 723442008 -> 79609003 (116676008) View
116676008 \|Associated morphology (attribute)\|	79609003 \|Congenital valgus deformity (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6820075021) - 723442008 -> 49076000 (363698007) View
363698007 \|Finding site (attribute)\|	49076000 \|Knee joint structure (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6827108022) - 723442008 -> 28347008 (363698007) View
363698007 \|Finding site (attribute)\|	28347008 \|External ear structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6827109025) - 723442008 -> 38146002 (116676008) View
116676008 \|Associated morphology (attribute)\|	38146002 \|Congenital hypoplasia (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6827110024) - 723442008 -> 392081006 (363698007) View
363698007 \|Finding site (attribute)\|	392081006 \|Bone structure of jaw (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6847879021) - 723442008 -> 38199008 (363698007) View
363698007 \|Finding site (attribute)\|	38199008 \|Tooth structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10529353025) - 723442008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10529358023) - 723442008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10529359026) - 723442008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10529360020) - 723442008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10529362028) - 723442008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10529363022) - 723442008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10529365026) - 723442008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10546539023) - 723442008 -> 28347008 (363698007) View
363698007 \|Finding site (attribute)\|	28347008 \|External ear structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10546540020) - 723442008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10546541024) - 723442008 -> 49076000 (363698007) View
363698007 \|Finding site (attribute)\|	49076000 \|Knee joint structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10607563020) - 723442008 -> 392081006 (363698007) View
363698007 \|Finding site (attribute)\|	392081006 \|Bone structure of jaw (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10607564025) - 723442008 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11183347025) - 723442008 -> 127561000 (116676008) View
116676008 \|Associated morphology (attribute)\|	127561000 \|Valgus deformity (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818147022) - 723442008 -> 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 (6818148028) - 723442008 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818149020) - 723442008 -> 89689008 (116680003) View
116680003 \|Is a (attribute)\|	89689008 \|Congenital genu valgum (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818150020) - 723442008 -> 109542004 (116680003) View
116680003 \|Is a (attribute)\|	109542004 \|Failure of tooth eruption (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818151024) - 723442008 -> 237513002 (116680003) View
116680003 \|Is a (attribute)\|	237513002 \|Congenital anomaly of bone and joint (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818153022) - 723442008 -> 282038006 (116680003) View
116680003 \|Is a (attribute)\|	282038006 \|Congenital abnormality of external ear (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818154027) - 723442008 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6818157023) - 723442008 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
896922007 View
896922007	Structural abnormality of bone structure of jaw (disorder)	Abnormal jaw bone morphology	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1148766007 View
1148766007	Hereditary disorder of tooth (disorder)	Hereditary disorder of tooth	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
300233000 View
300233000	Finding of dentition (finding)	Finding of dentition	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
42357009 View
42357009	Disorder of digestive system specific to fetus or newborn (disorder)	Perinatal digestive system disorders	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
89689008 View
89689008	Congenital genu valgum (disorder)	Congenital knock-knee	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
237513002 View
237513002	Congenital anomaly of bone and joint (disorder)	Congenital anomaly of bone and joint	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
282038006 View
282038006	Congenital abnormality of external ear (disorder)	Congenital abnormality of external ear	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
32003007 View
32003007	Congenital anomaly of face bones (disorder)	Face congenital deformities	900000000000073002 \|Sufficiently defined by necessary conditions 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
95473006 View
95473006	Congenital anomaly of jaw (disorder)	Malformation of jaw	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
109542004 View
109542004	Failure of tooth eruption (disorder)	Failure of tooth eruption	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
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 (12d92378-4e6b-5e94-8f2e-159b33828266) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	K07.0	TRUE	ALWAYS K07.0	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 (bec0c8aa-b13a-5270-8028-d2bfadc44476) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q74.1	TRUE	ALWAYS Q74.1	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 (e22a6614-9598-5339-98b3-814e13bec4fd) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	K07.0	TRUE	ALWAYS K07.0 \| 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)\|
ExtendedMap object (ee78964d-fbe2-54b8-843d-15841e2de4d0) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	K00.6	TRUE	ALWAYS K00.6 \| 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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