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Terminology chevron_right Concepts chevron_right 312214005

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Component

312214005

The component that hold information about this concept.

Fully Specified Name (FSN)

Floating-harbor syndrome (disorder)

Shortest Term

Floating-harbor 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

Floating-harbor syndrome (disorder)

SCTID: 312214005, Primitive, Active

312214005|Floating-harbor syndrome (disorder)|

en Floating-harbor syndrome
en Floating-harbor syndrome (disorder)

Expression

312214005 |Floating-harbor syndrome (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
76069003 |Disorder of bone (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
398302004 |Congenital anomaly of face (disorder)| + 
123983008 |Delayed bone age (finding)| + 
229721007 |Speech delay (disorder)| + 
237836003 |Short stature disorder (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)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 288547000 |Ability to perform functions related to communication (observable entity)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
        { 363698007 |Finding site (attribute)| = 272673000 |Bone structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
455888019 - Floating-Harbor syndrome (en) View
455888019	en	Synonym (core metadata concept)	Floating-Harbor syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
708860012 - Floating-Harbor syndrome (disorder) (en) View
708860012	en	Fully specified name (core metadata concept)	Floating-Harbor syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
455887012 - Floating-Harbour syndrome (en) View
455887012	en	Synonym (core metadata concept)	Floating-Harbour syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13824909020) - 312214005 -> 76069003 (116680003) View
116680003 \|Is a (attribute)\|	76069003 \|Disorder of bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13824910026) - 312214005 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13824911027) - 312214005 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12074841022) - 312214005 -> 363915008 (363714003) View
363714003 \|Interprets (attribute)\|	363915008 \|Speech and language observable (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069028024) - 312214005 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280463020) - 312214005 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11289437022) - 312214005 -> 284530008 (116680003) View
116680003 \|Is a (attribute)\|	284530008 \|Communication, speech and language finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11289439020) - 312214005 -> 118228005 (116680003) View
116680003 \|Is a (attribute)\|	118228005 \|Functional finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11289436029) - 312214005 -> 288547000 (363714003) View
363714003 \|Interprets (attribute)\|	288547000 \|Ability to perform functions related to communication (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11289438028) - 312214005 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7341204021) - 312214005 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10519633022) - 312214005 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519634027) - 312214005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1665109024) - 312214005 -> 281867008 (116680003) View
116680003 \|Is a (attribute)\|	281867008 \|Multisystem disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7341199026) - 312214005 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7341200028) - 312214005 -> 123983008 (116680003) View
116680003 \|Is a (attribute)\|	123983008 \|Delayed bone age (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7341201029) - 312214005 -> 229721007 (116680003) View
116680003 \|Is a (attribute)\|	229721007 \|Speech delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7341202020) - 312214005 -> 237836003 (116680003) View
116680003 \|Is a (attribute)\|	237836003 \|Short stature disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7341203026) - 312214005 -> 398302004 (116680003) View
116680003 \|Is a (attribute)\|	398302004 \|Congenital anomaly of face (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7341205022) - 312214005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7341206023) - 312214005 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (139498029) - 312214005 -> 312567006 (116680003) View
116680003 \|Is a (attribute)\|	312567006 \|Multisystem disorder e-f (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

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
398302004 View
398302004	Congenital anomaly of face (disorder)	Facial dysmorphism	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
76069003 View
76069003	Disorder of bone (disorder)	Osteopathia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
123983008 View
123983008	Delayed bone age (finding)	Delayed bone age	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
229721007 View
229721007	Speech delay (disorder)	Chậm nói	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
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 (6768247a-fe4e-5ba7-b8a2-7e2d4e77059b) 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)\|
ExtendedMap object (acfa9373-40b2-5a55-aa1a-4e917468b8cd) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.1	TRUE	ALWAYS Q87.1	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)\|

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