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Terminology chevron_right Concepts chevron_right 238861002

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Component

238861002

The component that hold information about this concept.

Fully Specified Name (FSN)

Juvenile hyaline fibromatosis (disorder)

Shortest Term

Puretic 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

Juvenile hyaline fibromatosis (disorder)

SCTID: 238861002, Primitive, Active

238861002|Juvenile hyaline fibromatosis (disorder)|

en Murray puretic drescher syndrome
en Juvenile hyaline fibromatosis
en Juvenile hyaline fibromatosis (disorder)
en Puretic syndrome
en Systemic hyalinosis

Expression

238861002 |Juvenile hyaline fibromatosis (disorder)|
 <<< 786894002 |Benign fibromatous neoplasm of skin (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
1197494003 |Hyaline fibromatosis syndrome (disorder)| + 
363185004 |Hereditary disorder of the integument (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 789439000 |Fibrous dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 272673000 |Bone structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 57048009 |Contracture (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 39352004 |Joint structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 30425001 |Osteolysis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 272673000 |Bone structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 19010006 |Hyaline degeneration (morphologic abnormality)| }
        { 116676008 |Associated morphology (attribute)| = 1290968003 |Juvenile hyaline fibromatosis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 39937001 |Skin structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4696609018 - Murray Puretic Drescher syndrome (en) View
4696609018	en	Synonym (core metadata concept)	Murray Puretic Drescher syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
357982019 - Juvenile hyaline fibromatosis (en) View
357982019	en	Synonym (core metadata concept)	Juvenile hyaline fibromatosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
627799017 - Juvenile hyaline fibromatosis (disorder) (en) View
627799017	en	Fully specified name (core metadata concept)	Juvenile hyaline fibromatosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
357983012 - Puretic syndrome (en) View
357983012	en	Synonym (core metadata concept)	Puretic syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
357984018 - Systemic hyalinosis (en) View
357984018	en	Synonym (core metadata concept)	Systemic hyalinosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15031584022) - 238861002 -> 19928005 (116676008) View
116676008 \|Associated morphology (attribute)\|	19928005 \|Fibromatosis (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15781366029) - 238861002 -> 786894002 (116680003) View
116680003 \|Is a (attribute)\|	786894002 \|Benign fibromatous neoplasm of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15781367022) - 238861002 -> 1290968003 (116676008) View
116676008 \|Associated morphology (attribute)\|	1290968003 \|Juvenile hyaline fibromatosis (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (54892025) - 238861002 -> 10623005 (116680003) View
116680003 \|Is a (attribute)\|	10623005 \|Fibrous dysplasia of bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15030851024) - 238861002 -> 1197494003 (116680003) View
116680003 \|Is a (attribute)\|	1197494003 \|Hyaline fibromatosis syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15030852028) - 238861002 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15030854027) - 238861002 -> 19010006 (116676008) View
116676008 \|Associated morphology (attribute)\|	19010006 \|Hyaline degeneration (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15030857023) - 238861002 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15030858029) - 238861002 -> 30425001 (116676008) View
116676008 \|Associated morphology (attribute)\|	30425001 \|Osteolysis (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15031581025) - 238861002 -> 39352004 (363698007) View
363698007 \|Finding site (attribute)\|	39352004 \|Joint structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15031582021) - 238861002 -> 57048009 (116676008) View
116676008 \|Associated morphology (attribute)\|	57048009 \|Contracture (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15031583027) - 238861002 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069823026) - 238861002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13068992024) - 238861002 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3418498022) - 238861002 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12069824021) - 238861002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069825022) - 238861002 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069826023) - 238861002 -> 789439000 (116676008) View
116676008 \|Associated morphology (attribute)\|	789439000 \|Fibrous dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069827025) - 238861002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (530009023) - 238861002 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (530011025) - 238861002 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3440206023) - 238861002 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (54893024) - 238861002 -> 253043004 (116680003) View
116680003 \|Is a (attribute)\|	253043004 \|Myofibromatosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (530010029) - 238861002 -> 73767002 (116676008) View
116676008 \|Associated morphology (attribute)\|	73767002 \|Myofibromatosis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (530013027) - 238861002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1730638026) - 238861002 -> 26107004 (363698007) View
363698007 \|Finding site (attribute)\|	26107004 \|Structure of musculoskeletal system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (54894029) - 238861002 -> 8447006 (116680003) View
116680003 \|Is a (attribute)\|	8447006 \|Congenital anomaly of skeletal bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (530012021) - 238861002 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (530014022) - 238861002 -> 181769001 (363698007) View
363698007 \|Finding site (attribute)\|	181769001 \|Connective tissue (substance)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1197494003 View
1197494003	Hyaline fibromatosis syndrome (disorder)	Hyaline fibromatosis syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
786894002 View
786894002	Benign fibromatous neoplasm of skin (disorder)	Benign fibromatous neoplasm of skin	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
363185004 View
363185004	Hereditary disorder of the integument (disorder)	Hereditary disorder of the integument	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 (9f4ea5b7-f4e4-506c-936a-bf313197ca83) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	M72.99	TRUE	ALWAYS M72.99	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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