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Terminology chevron_right Concepts chevron_right 54954004

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Extended Map with ID “111f4b24-9112-5bd4-9a8a-7911094f1439” doesn’t exist. Perhaps it was deleted?

Component

54954004

The component that hold information about this concept.

Fully Specified Name (FSN)

Aspartylglucosaminuria (disorder)

Shortest Term

Aspartylglucosaminuria

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

Aspartylglucosaminuria (disorder)

SCTID: 54954004, Primitive, Active

54954004|Aspartylglucosaminuria (disorder)|

en Aspartylglucosaminuria
en Aspartylglucosaminuria (disorder)
en Aspartylglycosaminuria

Expression

54954004 |Aspartylglucosaminuria (disorder)|
 <<< 85995004 |Autosomal recessive hereditary disorder (disorder)| + 
1155842003 |Oligosaccharidosis (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
88230002 |Disorder of skeletal system (disorder)| + 
128190004 |Inherited metabolic disorder of nervous system (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 113192009 |Skeletal system structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
        { 42752001 |Due to (attribute)| = 1370890005 |Deficiency of aspartylglucosaminidase (disorder)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
91354019 - Aspartylglucosaminidase deficiency (en) View
91354019	en	Synonym (core metadata concept)	Aspartylglucosaminidase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	False
1231386017 - Aspartylglycosylaminase deficiency (en) View
1231386017	en	Synonym (core metadata concept)	Aspartylglycosylaminase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	False
91352015 - Aspartylglucosaminuria (en) View
91352015	en	Synonym (core metadata concept)	Aspartylglucosaminuria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
793242016 - Aspartylglucosaminuria (disorder) (en) View
793242016	en	Fully specified name (core metadata concept)	Aspartylglucosaminuria (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
91353013 - Aspartylglycosaminuria (en) View
91353013	en	Synonym (core metadata concept)	Aspartylglycosaminuria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16404503020) - 54954004 -> 1370890005 (42752001) View
42752001 \|Due to (attribute)\|	1370890005 \|Deficiency of aspartylglucosaminidase (disorder)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13794990020) - 54954004 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15120450020) - 54954004 -> 128190004 (116680003) View
116680003 \|Is a (attribute)\|	128190004 \|Inherited metabolic disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (237474028) - 54954004 -> 279081001 (116680003) View
116680003 \|Is a (attribute)\|	279081001 \|Dysostosis multiplex group (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (237475027) - 54954004 -> 238045003 (116680003) View
116680003 \|Is a (attribute)\|	238045003 \|Disorder of glycoprotein metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (810303020) - 54954004 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (810306028) - 54954004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10519076020) - 54954004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13794991024) - 54954004 -> 1155842003 (116680003) View
116680003 \|Is a (attribute)\|	1155842003 \|Oligosaccharidosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13794992028) - 54954004 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13794993022) - 54954004 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13794994027) - 54954004 -> 88230002 (116680003) View
116680003 \|Is a (attribute)\|	88230002 \|Disorder of skeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13794995026) - 54954004 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3301778027) - 54954004 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4977704025) - 54954004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4987950025) - 54954004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023217025) - 54954004 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10519077027) - 54954004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (810305029) - 54954004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3301779024) - 54954004 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1770899028) - 54954004 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (810304025) - 54954004 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (237473023) - 54954004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
128190004 View
128190004	Inherited metabolic disorder of nervous system (disorder)	Inherited metabolic disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1155842003 View
1155842003	Oligosaccharidosis (disorder)	Oligosaccharidosis	900000000000074008 \|Necessary but not sufficient concept 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
88230002 View
88230002	Disorder of skeletal system (disorder)	Osteoarthropathy	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 (8712d7d1-4ddd-58e0-b319-2e97cb4e8c8e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E77.1	TRUE	ALWAYS E77.1 \| 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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