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Terminology chevron_right Concepts chevron_right 64716005

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Component

64716005

The component that hold information about this concept.

Fully Specified Name (FSN)

Fucosidosis (disorder)

Shortest Term

Fucosidosis

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

Fucosidosis (disorder)

SCTID: 64716005, Primitive, Active

64716005|Fucosidosis (disorder)|

en Fucosidase deficiency
en Fucosidosis
en Fucosidosis (disorder)
en Alpha-l-fucosidase deficiency
en Alpha-l-fucosidase deficiency

Expression

64716005 |Fucosidosis (disorder)|
 <<< 85995004 |Autosomal recessive hereditary disorder (disorder)| + 
1155842003 |Oligosaccharidosis (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
107552010 - Fucosidase deficiency (en) View
107552010	en	Synonym (core metadata concept)	Fucosidase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
107550019 - Fucosidosis (en) View
107550019	en	Synonym (core metadata concept)	Fucosidosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
804140014 - Fucosidosis (disorder) (en) View
804140014	en	Fully specified name (core metadata concept)	Fucosidosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1232603015 - Alpha-L-fucosidase deficiency (en) View
1232603015	en	Synonym (core metadata concept)	Alpha-L-fucosidase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
107553017 - alpha-L-fucosidase deficiency (en) View
107553017	en	Synonym (core metadata concept)	alpha-L-fucosidase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
107551015 - Fucosidosis, NOS (en) View
107551015	en	Synonym (core metadata concept)	Fucosidosis, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (253393022) - 64716005 -> 10741005 (116680003) View
116680003 \|Is a (attribute)\|	10741005 \|Lipid storage disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (253394027) - 64716005 -> 238045003 (116680003) View
116680003 \|Is a (attribute)\|	238045003 \|Disorder of glycoprotein metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (253395026) - 64716005 -> 279081001 (116680003) View
116680003 \|Is a (attribute)\|	279081001 \|Dysostosis multiplex group (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (835542028) - 64716005 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (835544027) - 64716005 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10533145027) - 64716005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13795076025) - 64716005 -> 1155842003 (116680003) View
116680003 \|Is a (attribute)\|	1155842003 \|Oligosaccharidosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3309530027) - 64716005 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4980436028) - 64716005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4990096023) - 64716005 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023450028) - 64716005 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10533144028) - 64716005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (835545026) - 64716005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3309451026) - 64716005 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1774172020) - 64716005 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (835543022) - 64716005 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (253392028) - 64716005 -> 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
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

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
399045007 View
399045007	Juvenile fucosidosis (disorder)	Fucosidosis type ii	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
399249008 View
399249008	Adult fucosidosis (disorder)	Adult fucosidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
61172008 View
61172008	Infantile fucosidosis (disorder)	Fucosidosis 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 (9d7fe622-8168-5e91-9b02-32c22f3be752) 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)\|

Terminology chevron_right Concepts chevron_right 64716005

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