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Terminology chevron_right Concepts chevron_right 75610003

Production

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Component

75610003

The component that hold information about this concept.

Fully Specified Name (FSN)

Mucopolysaccharidosis, mps-i (disorder)

Shortest Term

Mps i

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

Mucopolysaccharidosis, mps-i (disorder)

SCTID: 75610003, Primitive, Active

75610003|Mucopolysaccharidosis, mps-i (disorder)|

en Mucopolysaccharidosis type i (disorder)
en Alpha-l-iduronidase deficiency
en L-iduronidase deficiency
en Mps i
en Mpsi - mucopolysaccharidosis type i
en Mucopolysaccharidosis, mps-i
en Mucopolysaccharidosis type i

Expression

75610003 |Mucopolysaccharidosis, mps-i (disorder)|
 <<< 11380006 |Mucopolysaccharidosis (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
816240013 - Mucopolysaccharidosis, MPS-I (disorder) (en) View
816240013	en	Fully specified name (core metadata concept)	Mucopolysaccharidosis, MPS-I (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
2971922013 - Mucopolysaccharidosis type I (disorder) (en) View
2971922013	en	Fully specified name (core metadata concept)	Mucopolysaccharidosis type I (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
503068019 - Alpha-L-iduronidase deficiency (en) View
503068019	en	Synonym (core metadata concept)	Alpha-L-iduronidase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
125581019 - L-iduronidase deficiency (en) View
125581019	en	Synonym (core metadata concept)	L-iduronidase deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
125579016 - L-iduronidase deficiency, NOS (en) View
125579016	en	Synonym (core metadata concept)	L-iduronidase deficiency, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
125580018 - MPS I (en) View
125580018	en	Synonym (core metadata concept)	MPS I	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
503066015 - MPSI - Mucopolysaccharidosis type I (en) View
503066015	en	Synonym (core metadata concept)	MPSI - Mucopolysaccharidosis type I	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
125578012 - Mucopolysaccharidosis, MPS-I (en) View
125578012	en	Synonym (core metadata concept)	Mucopolysaccharidosis, MPS-I	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
503067012 - Mucopolysaccharidosis type I (en) View
503067012	en	Synonym (core metadata concept)	Mucopolysaccharidosis type I	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (862728022) - 75610003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (862729025) - 75610003 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (270958022) - 75610003 -> 11380006 (116680003) View
116680003 \|Is a (attribute)\|	11380006 \|Mucopolysaccharidosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (270959025) - 75610003 -> 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
11380006 View
11380006	Mucopolysaccharidosis (disorder)	Mucopolysaccharidosis	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
26745009 View
26745009	Mucopolysaccharidosis, mps-i-h/s (disorder)	Hurler-scheie syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
65327002 View
65327002	Mucopolysaccharidosis, mps-i-h (disorder)	Gargoylism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
73123008 View
73123008	Mucopolysaccharidosis, mps-i-s (disorder)	Scheie's syndrome	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 (0aa958a4-37c2-543e-a6dc-6056ac0214fe) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E76.0	TRUE	ALWAYS E76.0	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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