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Terminology chevron_right Concepts chevron_right 50108000

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Component

50108000

The component that hold information about this concept.

Fully Specified Name (FSN)

Osteochondrodysplasia with osteopetrosis (disorder)

Shortest Term

Osteochondrodysplasia with osteopetrosis

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Osteochondrodysplasia with osteopetrosis (disorder)

SCTID: 50108000, Defined, Active

50108000|Osteochondrodysplasia with osteopetrosis (disorder)|

en Osteochondrodysplasia with osteopetrosis
en Osteochondrodysplasia with osteopetrosis (disorder)

Expression

50108000 |Osteochondrodysplasia with osteopetrosis (disorder)|
 === 1926006 |Osteopetrosis (disorder)| + 
105986008 |Congenital skeletal dysplasia (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 113192009 |Skeletal system structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (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)| = 43857005 |Osteoclast turnover rate (observable entity)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
83474016 - Osteochondrodysplasia with osteopetrosis (en) View
83474016	en	Synonym (core metadata concept)	Osteochondrodysplasia with osteopetrosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
787860011 - Osteochondrodysplasia with osteopetrosis (disorder) (en) View
787860011	en	Fully specified name (core metadata concept)	Osteochondrodysplasia with osteopetrosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
83475015 - Osteochondrodysplasia with osteopetrosis, NOS (en) View
83475015	en	Synonym (core metadata concept)	Osteochondrodysplasia with osteopetrosis, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
83476019 - Osteochrondrodysplasia with osteopetrosis, NOS (en) View
83476019	en	Synonym (core metadata concept)	Osteochrondrodysplasia with osteopetrosis, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (229561022) - 50108000 -> 105986008 (116680003) View
116680003 \|Is a (attribute)\|	105986008 \|Congenital skeletal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (797084025) - 50108000 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (797086028) - 50108000 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (797088027) - 50108000 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1676670028) - 50108000 -> 240190009 (116680003) View
116680003 \|Is a (attribute)\|	240190009 \|Osteochondrodysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3378611023) - 50108000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4978658029) - 50108000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4988723028) - 50108000 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11574191026) - 50108000 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11574192022) - 50108000 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11574193028) - 50108000 -> 43857005 (363714003) View
363714003 \|Interprets (attribute)\|	43857005 \|Osteoclast turnover rate (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11574194023) - 50108000 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11574195024) - 50108000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5023276025) - 50108000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10523203029) - 50108000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10523204024) - 50108000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (797087021) - 50108000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3378610024) - 50108000 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1769332023) - 50108000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (229562026) - 50108000 -> 116022009 (116680003) View
116680003 \|Is a (attribute)\|	116022009 \|Multiple congenital malformations (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2228684023) - 50108000 -> 400038003 (116680003) View
116680003 \|Is a (attribute)\|	400038003 \|Congenital malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2267658025) - 50108000 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (797085029) - 50108000 -> 19730000 (116676008) View
116676008 \|Associated morphology (attribute)\|	19730000 \|Abnormally hard consistency (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1676669029) - 50108000 -> 1926006 (116680003) View
116680003 \|Is a (attribute)\|	1926006 \|Osteopetrosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1926006 View
1926006	Osteopetrosis (disorder)	Osteopetrosis	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

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
773730002 View
773730002	Osteopetrosis hypogammaglobulinemia syndrome (disorder)	Autosomal recessive osteopetrosis type 7	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1393001 View
1393001	Lenz-majewski hyperostosis syndrome (disorder)	Lenz-majewski dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
17568006 View
17568006	Sclerosteosis (disorder)	Sclerosteosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
89647000 View
89647000	Pyknodysostosis (disorder)	Pyknodysostosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254130008 View
254130008	Endosteal hyperostoses (disorder)	Endosteal hyperostoses	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
278833002 View
278833002	Craniometadiaphyseal dysplasia (disorder)	Craniometadiaphyseal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (5ef751c2-cae0-5bd1-b8bd-dcf2c356d2f3) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q78.2	TRUE	ALWAYS Q78.2	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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