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Terminology chevron_right Concepts chevron_right 763868006

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Component

763868006

The component that hold information about this concept.

Fully Specified Name (FSN)

Short stature homeobox related short stature (disorder)

Shortest Term

Shox-related short stature

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

Short stature homeobox related short stature (disorder)

SCTID: 763868006, Primitive, Active

763868006|Short stature homeobox related short stature (disorder)|

en Short stature homeobox related short stature
en Short stature homeobox related short stature (disorder)
en Shox-related short stature
en Shox (short stature homeobox) related short stature

Expression

763868006 |Short stature homeobox related short stature (disorder)|
 <<< 879976004 |Lesion of bone (disorder)| + 
8447006 |Congenital anomaly of skeletal bone (disorder)| + 
105986008 |Congenital skeletal dysplasia (disorder)| + 
237836003 |Short stature disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 272673000 |Bone structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 50373000 |Body height measure (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3644806018 - Short stature homeobox related short stature (en) View
3644806018	en	Synonym (core metadata concept)	Short stature homeobox related short stature	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3644805019 - Short stature homeobox related short stature (disorder) (en) View
3644805019	en	Fully specified name (core metadata concept)	Short stature homeobox related short stature (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3644804015 - SHOX-related short stature (en) View
3644804015	en	Synonym (core metadata concept)	SHOX-related short stature	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3644807010 - SHOX (short stature homeobox) related short stature (en) View
3644807010	en	Synonym (core metadata concept)	SHOX (short stature homeobox) related short stature	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16413202027) - 763868006 -> 879976004 (116680003) View
116680003 \|Is a (attribute)\|	879976004 \|Lesion of bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9159882024) - 763868006 -> 205473008 (116680003) View
116680003 \|Is a (attribute)\|	205473008 \|Mesomelic dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9159883025) - 763868006 -> 237836003 (116680003) View
116680003 \|Is a (attribute)\|	237836003 \|Short stature disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11571803024) - 763868006 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13280612027) - 763868006 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15493523022) - 763868006 -> 105986008 (116680003) View
116680003 \|Is a (attribute)\|	105986008 \|Congenital skeletal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15493527023) - 763868006 -> 50373000 (363714003) View
363714003 \|Interprets (attribute)\|	50373000 \|Body height measure (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15493528029) - 763868006 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224795023) - 763868006 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11227643027) - 763868006 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11293166023) - 763868006 -> 8447006 (116680003) View
116680003 \|Is a (attribute)\|	8447006 \|Congenital anomaly of skeletal bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10520163024) - 763868006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224793027) - 763868006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224794022) - 763868006 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
879976004 View
879976004	Lesion of bone (disorder)	Lesion of bone	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
8447006 View
8447006	Congenital anomaly of skeletal bone (disorder)	Congenital skeletal anomaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
105986008 View
105986008	Congenital skeletal dysplasia (disorder)	Osteodysplasia	900000000000073002 \|Sufficiently defined by necessary conditions 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

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 (79b5ebd4-ce8e-50b4-9de4-5b1ba4a6a5fe) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.1	TRUE	ALWAYS Q87.1 \| 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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