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Terminology chevron_right Concepts chevron_right 254132000

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Component

254132000

The component that hold information about this concept.

Fully Specified Name (FSN)

Endosteal hyperostoses with cerebellar hypoplasia (disorder)

Shortest Term

Endosteal hyperostoses with cerebellar hypoplasia

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

Endosteal hyperostoses with cerebellar hypoplasia (disorder)

SCTID: 254132000, Primitive, Active

254132000|Endosteal hyperostoses with cerebellar hypoplasia (disorder)|

en Endosteal hyperostoses with cerebellar hypoplasia
en Endosteal hyperostoses with cerebellar hypoplasia (disorder)

Expression

254132000 |Endosteal hyperostoses with cerebellar hypoplasia (disorder)|
 <<< 254130008 |Endosteal hyperostoses (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
16026008 |Congenital cerebellar hypoplasia (disorder)| + 
78689005 |Chronic brain syndrome (disorder)| + 
85995004 |Autosomal recessive hereditary 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)| = 281302008 |Above reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 312681000 |Bone density scan (procedure)| }
        { 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)| }
        { 116676008 |Associated morphology (attribute)| = 55199003 |Hypoplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 113305005 |Cerebellar structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
378304011 - Endosteal hyperostoses with cerebellar hypoplasia (en) View
378304011	en	Synonym (core metadata concept)	Endosteal hyperostoses with cerebellar hypoplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
644981018 - Endosteal hyperostoses with cerebellar hypoplasia (disorder) (en) View
644981018	en	Fully specified name (core metadata concept)	Endosteal hyperostoses with cerebellar hypoplasia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13762108029) - 254132000 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13762109021) - 254132000 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13762110027) - 254132000 -> 16026008 (116680003) View
116680003 \|Is a (attribute)\|	16026008 \|Congenital cerebellar hypoplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13762111028) - 254132000 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13762112024) - 254132000 -> 78689005 (116680003) View
116680003 \|Is a (attribute)\|	78689005 \|Chronic brain syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13762114020) - 254132000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13762115021) - 254132000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13762116022) - 254132000 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (473114023) - 254132000 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3459605028) - 254132000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11570114025) - 254132000 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11570115029) - 254132000 -> 43857005 (363714003) View
363714003 \|Interprets (attribute)\|	43857005 \|Osteoclast turnover rate (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11570116028) - 254132000 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11570117021) - 254132000 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11570118027) - 254132000 -> 312681000 (363714003) View
363714003 \|Interprets (attribute)\|	312681000 \|Bone density scan (procedure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (579676027) - 254132000 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4982716023) - 254132000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4992011020) - 254132000 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023611021) - 254132000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10527674028) - 254132000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527675027) - 254132000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (579684028) - 254132000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3456346027) - 254132000 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1736379025) - 254132000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2256504020) - 254132000 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (473115024) - 254132000 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (579677020) - 254132000 -> 19730000 (116676008) View
116676008 \|Associated morphology (attribute)\|	19730000 \|Abnormally hard consistency (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (74235024) - 254132000 -> 254130008 (116680003) View
116680003 \|Is a (attribute)\|	254130008 \|Endosteal hyperostoses (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
16026008 View
16026008	Congenital cerebellar hypoplasia (disorder)	Cerebellar hypoplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
78689005 View
78689005	Chronic brain syndrome (disorder)	Chronic brain syndrome	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
254130008 View
254130008	Endosteal hyperostoses (disorder)	Endosteal hyperostoses	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous 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 (108aab2f-781e-5278-a2bf-436ef2b6ae04) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8	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 (c6908b72-e7bc-5c34-a091-bb9efa018ee1) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q79.8	TRUE	ALWAYS Q79.8	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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