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Terminology chevron_right Concepts chevron_right 70199000

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Component

70199000

The component that hold information about this concept.

Fully Specified Name (FSN)

I-cell disease (disorder)

Shortest Term

I-cell disease

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

I-cell disease (disorder)

SCTID: 70199000, Primitive, Active

70199000|I-cell disease (disorder)|

en I-cell disease (disorder)
en I-cell disease
en I-cell - inclusion cell disease
en Mucolipidosis ii
en Mucolipidosis type ii
en N-acetylglucosamine-1-phosphotransferase deficiency

Expression

70199000 |I-cell disease (disorder)|
 <<< 85995004 |Autosomal recessive hereditary disorder (disorder)| + 
70528007 |Mucolipidosis (disorder)| + 
238045003 |Disorder of glycoprotein metabolism (disorder)| + 
10741005 |Lipid storage disease (disorder)| + 
279081001 |Dysostosis multiplex group (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
501514014 - N-Acetylglucosamine-1-phosphotransferase deficiency (en) View
501514014	en	Synonym (core metadata concept)	N-Acetylglucosamine-1-phosphotransferase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
810228019 - I-cell disease (disorder) (en) View
810228019	en	Fully specified name (core metadata concept)	I-cell disease (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
116594013 - I-cell disease (en) View
116594013	en	Synonym (core metadata concept)	I-cell disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
501512013 - I-cell - Inclusion cell disease (en) View
501512013	en	Synonym (core metadata concept)	I-cell - Inclusion cell disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
116595014 - Mucolipidosis II (en) View
116595014	en	Synonym (core metadata concept)	Mucolipidosis II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
501513015 - Mucolipidosis type II (en) View
501513015	en	Synonym (core metadata concept)	Mucolipidosis type II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
116596010 - N-acetylglucosamine-1-phosphotransferase deficiency (en) View
116596010	en	Synonym (core metadata concept)	N-acetylglucosamine-1-phosphotransferase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15681300021) - 70199000 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15681301020) - 70199000 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (848911029) - 70199000 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3304306028) - 70199000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (848908025) - 70199000 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4978868020) - 70199000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4988906029) - 70199000 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023290027) - 70199000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10529994028) - 70199000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10529995027) - 70199000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (848910028) - 70199000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3304307021) - 70199000 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1776057021) - 70199000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (848909022) - 70199000 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (262218023) - 70199000 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (262219026) - 70199000 -> 70528007 (116680003) View
116680003 \|Is a (attribute)\|	70528007 \|Mucolipidosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (262220021) - 70199000 -> 238045003 (116680003) View
116680003 \|Is a (attribute)\|	238045003 \|Disorder of glycoprotein metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (262221020) - 70199000 -> 10741005 (116680003) View
116680003 \|Is a (attribute)\|	10741005 \|Lipid storage disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (262222029) - 70199000 -> 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
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
10741005 View
10741005	Lipid storage disease (disorder)	Lipidoses	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
70528007 View
70528007	Mucolipidosis (disorder)	Mucolipidosis	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
238045003 View
238045003	Disorder of glycoprotein metabolism (disorder)	Glycoprotein metabolism disorder	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
65764006 View
65764006	Pseudo-hurler polydystrophy (disorder)	Mucolipidosis iii	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 (250d40fb-cb47-5f1b-9bd9-dc725880200e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E77.0	TRUE	ALWAYS E77.0	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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