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Terminology chevron_right Concepts chevron_right 715672007

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Component

715672007

The component that hold information about this concept.

Fully Specified Name (FSN)

Multiple epiphyseal dysplasia type 4 (disorder)

Shortest Term

Multiple epiphyseal dysplasia type 4

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

Multiple epiphyseal dysplasia type 4 (disorder)

SCTID: 715672007, Primitive, Active

715672007|Multiple epiphyseal dysplasia type 4 (disorder)|

en Autosomal recessive multiple epiphyseal dysplasia
en Multiple epiphyseal dysplasia type 4
en Multiple epiphyseal dysplasia type 4 (disorder)

Expression

715672007 |Multiple epiphyseal dysplasia type 4 (disorder)|
 <<< 59708000 |Multiple epiphyseal dysplasia (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 43719000 |Structure of epiphysis (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (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
3303374012 - Autosomal recessive multiple epiphyseal dysplasia (en) View
3303374012	en	Synonym (core metadata concept)	Autosomal recessive multiple epiphyseal dysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3303373018 - Multiple epiphyseal dysplasia type 4 (en) View
3303373018	en	Synonym (core metadata concept)	Multiple epiphyseal dysplasia type 4	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3303372011 - Multiple epiphyseal dysplasia type 4 (disorder) (en) View
3303372011	en	Fully specified name (core metadata concept)	Multiple epiphyseal dysplasia type 4 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13280558024) - 715672007 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6771138020) - 715672007 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11226993021) - 715672007 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11573178023) - 715672007 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532512025) - 715672007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6552382020) - 715672007 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6552383026) - 715672007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6552384021) - 715672007 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6552385022) - 715672007 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6552386023) - 715672007 -> 43719000 (363698007) View
363698007 \|Finding site (attribute)\|	43719000 \|Structure of epiphysis (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6771139028) - 715672007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6771140026) - 715672007 -> 43719000 (363698007) View
363698007 \|Finding site (attribute)\|	43719000 \|Structure of epiphysis (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6552380028) - 715672007 -> 59708000 (116680003) View
116680003 \|Is a (attribute)\|	59708000 \|Multiple epiphyseal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6552381029) - 715672007 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
59708000 View
59708000	Multiple epiphyseal dysplasia (disorder)	Multiple epiphyseal dysplasia	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

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 (b38803a1-2cf5-5aa8-b345-a13dcc0f8d99) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q77.3	TRUE	ALWAYS Q77.3 \| 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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