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Terminology chevron_right Concepts chevron_right 1222661007

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Component

1222661007

The component that hold information about this concept.

Fully Specified Name (FSN)

Early-onset calcifying leukoencephalopathy, skeletal dysplasia (disorder)

Shortest Term

Early-onset calcifying leucoencephalopathy, skeletal dysplasia

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

Early-onset calcifying leukoencephalopathy, skeletal dysplasia (disorder)

SCTID: 1222661007, Primitive, Active

1222661007|Early-onset calcifying leukoencephalopathy, skeletal dysplasia (disorder)|

en Early-onset calcifying leucoencephalopathy, skeletal dysplasia
en Early-onset calcifying leukoencephalopathy, skeletal dysplasia
en Early-onset calcifying leukoencephalopathy, skeletal dysplasia (disorder)

Expression

1222661007 |Early-onset calcifying leukoencephalopathy, skeletal dysplasia (disorder)|
 <<< 106018006 |Hereditary degenerative disease of central nervous system (disorder)| + 
128237006 |Chronic disease of musculoskeletal system (disorder)| + 
17944005 |Cerebral calcification (disorder)| + 
22811006 |Leukoencephalopathy (disorder)| + 
254120004 |Dysplasia with increased bone density (disorder)| + 
2584003 |Cerebral degeneration in childhood (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
78689005 |Chronic brain syndrome (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
8447006 |Congenital anomaly of skeletal bone (disorder)| + 
879976004 |Lesion of bone (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 18115005 |Pathologic calcification, calcified structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 68523003 |Cerebral white matter structure (body structure)|,
246454002 |Occurrence (attribute)| = 255398004 |Childhood (qualifier value)| }
        { 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)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5048356019 - Early-onset calcifying leucoencephalopathy, skeletal dysplasia (en) View
5048356019	en	Synonym (core metadata concept)	Early-onset calcifying leucoencephalopathy, skeletal dysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5048357011 - Early-onset calcifying leukoencephalopathy, skeletal dysplasia (en) View
5048357011	en	Synonym (core metadata concept)	Early-onset calcifying leukoencephalopathy, skeletal dysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5048358018 - Early-onset calcifying leukoencephalopathy, skeletal dysplasia (disorder) (en) View
5048358018	en	Fully specified name (core metadata concept)	Early-onset calcifying leukoencephalopathy, skeletal dysplasia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16413335023) - 1222661007 -> 879976004 (116680003) View
116680003 \|Is a (attribute)\|	879976004 \|Lesion of bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15179399025) - 1222661007 -> 106018006 (116680003) View
116680003 \|Is a (attribute)\|	106018006 \|Hereditary degenerative disease of central nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15179400021) - 1222661007 -> 128237006 (116680003) View
116680003 \|Is a (attribute)\|	128237006 \|Chronic disease of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15179401020) - 1222661007 -> 17944005 (116680003) View
116680003 \|Is a (attribute)\|	17944005 \|Cerebral calcification (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15179402029) - 1222661007 -> 22811006 (116680003) View
116680003 \|Is a (attribute)\|	22811006 \|Leukoencephalopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15179403023) - 1222661007 -> 254120004 (116680003) View
116680003 \|Is a (attribute)\|	254120004 \|Dysplasia with increased bone density (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15179404028) - 1222661007 -> 2584003 (116680003) View
116680003 \|Is a (attribute)\|	2584003 \|Cerebral degeneration in childhood (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15179405027) - 1222661007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15179406026) - 1222661007 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15179407024) - 1222661007 -> 78689005 (116680003) View
116680003 \|Is a (attribute)\|	78689005 \|Chronic brain syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15179408025) - 1222661007 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15179409022) - 1222661007 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15179411029) - 1222661007 -> 312681000 (363714003) View
363714003 \|Interprets (attribute)\|	312681000 \|Bone density scan (procedure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15179412020) - 1222661007 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15179413026) - 1222661007 -> 255398004 (246454002) View
246454002 \|Occurrence (attribute)\|	255398004 \|Childhood (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15179414021) - 1222661007 -> 68523003 (363698007) View
363698007 \|Finding site (attribute)\|	68523003 \|Cerebral white matter structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15179415022) - 1222661007 -> 18115005 (116676008) View
116676008 \|Associated morphology (attribute)\|	18115005 \|Pathologic calcification, calcified structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15179416023) - 1222661007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15179418024) - 1222661007 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15179419027) - 1222661007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15179420022) - 1222661007 -> 8447006 (116680003) View
116680003 \|Is a (attribute)\|	8447006 \|Congenital anomaly of skeletal bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15179421021) - 1222661007 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
879976004 View
879976004	Lesion of bone (disorder)	Lesion of bone	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
106018006 View
106018006	Hereditary degenerative disease of central nervous system (disorder)	Hereditary degenerative disease of central nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
254120004 View
254120004	Dysplasia with increased bone density (disorder)	Dysplasia with increased bone density	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
22811006 View
22811006	Leukoencephalopathy (disorder)	Leucoencephalopathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
17944005 View
17944005	Cerebral calcification (disorder)	Cerebral calcification	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
2584003 View
2584003	Cerebral degeneration in childhood (disorder)	Cerebral degeneration in childhood	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
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
128237006 View
128237006	Chronic disease of musculoskeletal system (disorder)	Chronic musculoskeletal disease	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 (0b976472-7a6d-5f06-a05c-c1f1e4c1378f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G31.8	TRUE	ALWAYS G31.8 \| 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)\|
ExtendedMap object (c31bfef5-158c-5cd1-b3f3-d8c3a17b2779) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G93.4	TRUE	ALWAYS G93.4 \| 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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