dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 1296731001

Production

add

Component

1296731001

The component that hold information about this concept.

Fully Specified Name (FSN)

Atypical krabbe disease due to saposin a deficiency (disorder)

Shortest Term

Atypical krabbe disease due to saposin a deficiency

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

Atypical krabbe disease due to saposin a deficiency (disorder)

SCTID: 1296731001, Primitive, Active

1296731001|Atypical krabbe disease due to saposin a deficiency (disorder)|

en Atypical krabbe disease due to saposin a deficiency
en Atypical krabbe disease due to saposin a deficiency (disorder)

Expression

1296731001 |Atypical krabbe disease due to saposin a deficiency (disorder)|
 <<< 106018006 |Hereditary degenerative disease of central nervous system (disorder)| + 
299735001 |Neurological lesion (finding)| + 
386033004 |Neuropathy (disorder)| + 
50043002 |Disorder of respiratory system (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
52522001 |Degenerative brain disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 125495003 |Myelin sheath alteration (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 54115001 |Myelinated nerve fiber structure (body structure)|,
246454002 |Occurrence (attribute)| = 3658006 |Infancy (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 13331008 |Atrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
246454002 |Occurrence (attribute)| = 3658006 |Infancy (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 20139000 |Structure of respiratory system (body structure)|,
246454002 |Occurrence (attribute)| = 3658006 |Infancy (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5286769011 - Atypical Krabbe disease due to saposin A deficiency (en) View
5286769011	en	Synonym (core metadata concept)	Atypical Krabbe disease due to saposin A deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
5286768015 - Atypical Krabbe disease due to saposin A deficiency (disorder) (en) View
5286768015	en	Fully specified name (core metadata concept)	Atypical Krabbe disease due to saposin A deficiency (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15814917027) - 1296731001 -> 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 (15814918021) - 1296731001 -> 299735001 (116680003) View
116680003 \|Is a (attribute)\|	299735001 \|Neurological lesion (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15814919029) - 1296731001 -> 386033004 (116680003) View
116680003 \|Is a (attribute)\|	386033004 \|Neuropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15814920024) - 1296731001 -> 50043002 (116680003) View
116680003 \|Is a (attribute)\|	50043002 \|Disorder of respiratory system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15814922027) - 1296731001 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15814923021) - 1296731001 -> 3658006 (246454002) View
246454002 \|Occurrence (attribute)\|	3658006 \|Infancy (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15814924026) - 1296731001 -> 54115001 (363698007) View
363698007 \|Finding site (attribute)\|	54115001 \|Myelinated nerve fiber structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15814925025) - 1296731001 -> 125495003 (116676008) View
116676008 \|Associated morphology (attribute)\|	125495003 \|Myelin sheath alteration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15814926029) - 1296731001 -> 3658006 (246454002) View
246454002 \|Occurrence (attribute)\|	3658006 \|Infancy (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15814927022) - 1296731001 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15814928028) - 1296731001 -> 13331008 (116676008) View
116676008 \|Associated morphology (attribute)\|	13331008 \|Atrophy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15814929020) - 1296731001 -> 3658006 (246454002) View
246454002 \|Occurrence (attribute)\|	3658006 \|Infancy (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15814930026) - 1296731001 -> 20139000 (363698007) View
363698007 \|Finding site (attribute)\|	20139000 \|Structure of respiratory system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15815398023) - 1296731001 -> 52522001 (116680003) View
116680003 \|Is a (attribute)\|	52522001 \|Degenerative brain disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
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
299735001 View
299735001	Neurological lesion (finding)	Neurological lesion	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
52522001 View
52522001	Degenerative brain disorder (disorder)	Cerebral degeneration	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
386033004 View
386033004	Neuropathy (disorder)	Neuropathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
50043002 View
50043002	Disorder of respiratory system (disorder)	Bệnh hệ hô hấp	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

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 (7a1a902b-7ab3-5ec3-a410-8aca4f9dad47) 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 1296731001

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches