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Terminology chevron_right Concepts chevron_right 65524005

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Component

65524005

The component that hold information about this concept.

Fully Specified Name (FSN)

Mannosidosis (disorder)

Shortest Term

Mannosidosis

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

Mannosidosis (disorder)

SCTID: 65524005, Primitive, Active

65524005|Mannosidosis (disorder)|

en Alpha-mannosidase deficiency
en Mannosidosis
en Mannosidosis (disorder)
en Alpha-d-mannosidosis
en Alpha-mannosidase deficiency

Expression

65524005 |Mannosidosis (disorder)|
 <<< 85995004 |Autosomal recessive hereditary disorder (disorder)| + 
279081001 |Dysostosis multiplex group (disorder)| + 
1155842003 |Oligosaccharidosis (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
1232692019 - Alpha-mannosidase deficiency (en) View
1232692019	en	Synonym (core metadata concept)	Alpha-mannosidase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
108872013 - Mannosidosis (en) View
108872013	en	Synonym (core metadata concept)	Mannosidosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
805037019 - Mannosidosis (disorder) (en) View
805037019	en	Fully specified name (core metadata concept)	Mannosidosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1232691014 - Alpha-D-mannosidosis (en) View
1232691014	en	Synonym (core metadata concept)	Alpha-D-mannosidosis	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
108874014 - alpha-Mannosidase deficiency (en) View
108874014	en	Synonym (core metadata concept)	alpha-Mannosidase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
108873015 - Mannosidosis, NOS (en) View
108873015	en	Synonym (core metadata concept)	Mannosidosis, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15681298021) - 65524005 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15681299029) - 65524005 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (254643021) - 65524005 -> 238045003 (116680003) View
116680003 \|Is a (attribute)\|	238045003 \|Disorder of glycoprotein metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13794952025) - 65524005 -> 1155842003 (116680003) View
116680003 \|Is a (attribute)\|	1155842003 \|Oligosaccharidosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (837242025) - 65524005 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3351613029) - 65524005 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (837244029) - 65524005 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4976515025) - 65524005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4986909029) - 65524005 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023124020) - 65524005 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10526367024) - 65524005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526368025) - 65524005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (837243024) - 65524005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3351614024) - 65524005 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1774423021) - 65524005 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (837245028) - 65524005 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (254641023) - 65524005 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (254642027) - 65524005 -> 279081001 (116680003) View
116680003 \|Is a (attribute)\|	279081001 \|Dysostosis multiplex group (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1155842003 View
1155842003	Oligosaccharidosis (disorder)	Oligosaccharidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	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
279081001 View
279081001	Dysostosis multiplex group (disorder)	Dysostosis multiplex group	900000000000074008 \|Necessary but not sufficient concept 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
58112007 View
58112007	Mannosidosis, type ii (disorder)	Juvenile mannosidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
62311004 View
62311004	Mannosidosis, type i (disorder)	Mannosidosis, type i	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (78dc267a-0cc5-5251-be79-e68edb960c52) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E77.1	TRUE	ALWAYS E77.1	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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