dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 764095005

Production

add

Component

764095005

The component that hold information about this concept.

Fully Specified Name (FSN)

Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)

Shortest Term

Ataxia, delayed dentition, hypomyelination 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

Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)

SCTID: 764095005, Primitive, Active

764095005|Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)|

en Ataxia, delayed dentition, hypomyelination syndrome
en Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome
en Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)

Expression

764095005 |Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)|
 <<< 278849000 |Cerebral atrophy (disorder)| + 
763597000 |Hereditary ataxia (disorder)| + 
1208933000 |4h leukodystrophy (disorder)| + 
422775003 |Malformation of tooth (disorder)| + 
5639000 |Late tooth eruption (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 13331008 |Atrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 83678007 |Cerebral structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 125495003 |Myelin sheath alteration (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 54115001 |Myelinated nerve fiber structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 389080008 |White matter structure of brain and spinal cord (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 50353005 |Maturation deceleration (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 38199008 |Tooth structure (body structure)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 304041004 |Gonadal endocrine structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 52618001 |Structure of pars distalis of pituitary (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 364113008 |Eruption of tooth (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3646024019 - Ataxia, delayed dentition, hypomyelination syndrome (en) View
3646024019	en	Synonym (core metadata concept)	Ataxia, delayed dentition, hypomyelination syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3646025018 - Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (en) View
3646025018	en	Synonym (core metadata concept)	Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3646023013 - Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) (en) View
3646023013	en	Fully specified name (core metadata concept)	Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15706359027) - 764095005 -> 364113008 (363714003) View
363714003 \|Interprets (attribute)\|	364113008 \|Eruption of tooth (observable entity)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15706360021) - 764095005 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9159996025) - 764095005 -> 66091009 (116680003) View
116680003 \|Is a (attribute)\|	66091009 \|Congenital disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9159997023) - 764095005 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9159998029) - 764095005 -> 192781003 (116680003) View
116680003 \|Is a (attribute)\|	192781003 \|Leukodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9224895029) - 764095005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12095098027) - 764095005 -> 106018006 (116680003) View
116680003 \|Is a (attribute)\|	106018006 \|Hereditary degenerative disease of central nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15101607023) - 764095005 -> 1208933000 (116680003) View
116680003 \|Is a (attribute)\|	1208933000 \|4h leukodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15101608029) - 764095005 -> 422775003 (116680003) View
116680003 \|Is a (attribute)\|	422775003 \|Malformation of tooth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15101609021) - 764095005 -> 5639000 (116680003) View
116680003 \|Is a (attribute)\|	5639000 \|Late tooth eruption (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15101610027) - 764095005 -> 304041004 (363698007) View
363698007 \|Finding site (attribute)\|	304041004 \|Gonadal endocrine structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15101611028) - 764095005 -> 52618001 (363698007) View
363698007 \|Finding site (attribute)\|	52618001 \|Structure of pars distalis of pituitary (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15101612024) - 764095005 -> 38199008 (363698007) View
363698007 \|Finding site (attribute)\|	38199008 \|Tooth structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15101613025) - 764095005 -> 50353005 (116676008) View
116676008 \|Associated morphology (attribute)\|	50353005 \|Maturation deceleration (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15101614020) - 764095005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9465367026) - 764095005 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9159999021) - 764095005 -> 278849000 (116680003) View
116680003 \|Is a (attribute)\|	278849000 \|Cerebral atrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9160000020) - 764095005 -> 763597000 (116680003) View
116680003 \|Is a (attribute)\|	763597000 \|Hereditary ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9160004027) - 764095005 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9160988025) - 764095005 -> 125495003 (116676008) View
116676008 \|Associated morphology (attribute)\|	125495003 \|Myelin sheath alteration (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224893020) - 764095005 -> 13331008 (116676008) View
116676008 \|Associated morphology (attribute)\|	13331008 \|Atrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224894025) - 764095005 -> 83678007 (363698007) View
363698007 \|Finding site (attribute)\|	83678007 \|Cerebral structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9465368020) - 764095005 -> 389080008 (363698007) View
363698007 \|Finding site (attribute)\|	389080008 \|White matter structure of brain and spinal cord (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9465369028) - 764095005 -> 54115001 (363698007) View
363698007 \|Finding site (attribute)\|	54115001 \|Myelinated nerve fiber structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1208933000 View
1208933000	4h leukodystrophy (disorder)	4h leucodystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
422775003 View
422775003	Malformation of tooth (disorder)	Teeth malformation	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
5639000 View
5639000	Late tooth eruption (disorder)	Delayed dentition	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
763597000 View
763597000	Hereditary ataxia (disorder)	Hereditary ataxia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
278849000 View
278849000	Cerebral atrophy (disorder)	Cerebral atrophy	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 (0392bdfa-8b45-50e8-adfd-d1ae24f8ba65) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E75.2	TRUE	ALWAYS E75.2 \| 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)\|

Terminology chevron_right Concepts chevron_right 764095005

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches