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Terminology chevron_right Concepts chevron_right 733066002

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Component

733066002

The component that hold information about this concept.

Fully Specified Name (FSN)

Trigonocephaly, short stature, developmental delay syndrome (disorder)

Shortest Term

Say meyer 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

Trigonocephaly, short stature, developmental delay syndrome (disorder)

SCTID: 733066002, Primitive, Active

733066002|Trigonocephaly, short stature, developmental delay syndrome (disorder)|

en Say meyer syndrome
en Trigonocephaly, short stature, developmental delay syndrome
en Trigonocephaly, short stature, developmental delay syndrome (disorder)

Expression

733066002 |Trigonocephaly, short stature, developmental delay syndrome (disorder)|
 <<< 363070008 |Developmental hereditary disorder (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| + 
237836003 |Short stature disorder (disorder)| + 
248290002 |Developmental delay (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
28740008 |Trigonocephaly (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 1297034009 |Premature fusion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 74448009 |Structure of frontal suture of skull (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 399984000 |Abnormal shape (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 74872008 |Frontal bone 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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3498664019 - Say Meyer syndrome (en) View
3498664019	en	Synonym (core metadata concept)	Say Meyer syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3498663013 - Trigonocephaly, short stature, developmental delay syndrome (en) View
3498663013	en	Synonym (core metadata concept)	Trigonocephaly, short stature, developmental delay syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3498662015 - Trigonocephaly, short stature, developmental delay syndrome (disorder) (en) View
3498662015	en	Fully specified name (core metadata concept)	Trigonocephaly, short stature, developmental delay syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (10539843027) - 733066002 -> 67798003 (116676008) View
116676008 \|Associated morphology (attribute)\|	67798003 \|Congenital premature fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15839145026) - 733066002 -> 1297034009 (116676008) View
116676008 \|Associated morphology (attribute)\|	1297034009 \|Premature fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069547028) - 733066002 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280546024) - 733066002 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994226028) - 733066002 -> 43948000 (116676008) View
116676008 \|Associated morphology (attribute)\|	43948000 \|Congenital abnormal shape (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11322371021) - 733066002 -> 399984000 (116676008) View
116676008 \|Associated morphology (attribute)\|	399984000 \|Abnormal shape (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994224025) - 733066002 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6994228027) - 733066002 -> 74872008 (363698007) View
363698007 \|Finding site (attribute)\|	74872008 \|Frontal bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994230025) - 733066002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6996018026) - 733066002 -> 67798003 (116676008) View
116676008 \|Associated morphology (attribute)\|	67798003 \|Congenital premature fusion (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6996019023) - 733066002 -> 74448009 (363698007) View
363698007 \|Finding site (attribute)\|	74448009 \|Structure of frontal suture of skull (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6996020028) - 733066002 -> 43948000 (116676008) View
116676008 \|Associated morphology (attribute)\|	43948000 \|Congenital abnormal shape (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6996021029) - 733066002 -> 74872008 (363698007) View
363698007 \|Finding site (attribute)\|	74872008 \|Frontal bone structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10532382022) - 733066002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532383028) - 733066002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532385024) - 733066002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539842021) - 733066002 -> 74448009 (363698007) View
363698007 \|Finding site (attribute)\|	74448009 \|Structure of frontal suture of skull (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994220023) - 733066002 -> 28740008 (116680003) View
116680003 \|Is a (attribute)\|	28740008 \|Trigonocephaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994221022) - 733066002 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994222026) - 733066002 -> 237836003 (116680003) View
116680003 \|Is a (attribute)\|	237836003 \|Short stature disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994223020) - 733066002 -> 248290002 (116680003) View
116680003 \|Is a (attribute)\|	248290002 \|Developmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994225029) - 733066002 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6994227021) - 733066002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	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
28740008 View
28740008	Trigonocephaly (disorder)	Trigonocephaly	900000000000074008 \|Necessary but not sufficient concept 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
248290002 View
248290002	Developmental delay (disorder)	Chậm phát triển	900000000000074008 \|Necessary but not sufficient concept 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 (8368f787-8ef6-5d79-8f73-ee447c60e7dc) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.0	TRUE	ALWAYS Q87.0 \| 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)\|

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