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Terminology chevron_right Concepts chevron_right 378007

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Component

378007

The component that hold information about this concept.

Fully Specified Name (FSN)

Morquio syndrome (disorder)

Shortest Term

Morquio 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

Morquio syndrome (disorder)

SCTID: 378007, Primitive, Active

378007|Morquio syndrome (disorder)|

en Keratan sulfaturia
en Keratan sulphaturia
en Chondro-osteodystrophy
en Atypical chondrodystrophy
en Chondrodystrophia tarda
en Familial osseous dystrophy
en Familial osteochondrodystrophy
en Hereditary enchondral dysostosis
en Osteochondrodystrophia deformans
en Osteochondrodystrophy
en Morquio syndrome (disorder)
en Brailsford-morquio syndrome
en Morquio-brailsford disease
en Morquio disease
en Morquio-suarez syndrome
en Morquio syndrome
en Morquio-ullrich disease
en Mucopolysaccharidosis, mps-iv
en Mucopolysaccharidosis type iv

Expression

378007 |Morquio syndrome (disorder)|
 <<< 11380006 |Mucopolysaccharidosis (disorder)| + 
50279003 |Metabolic bone disease (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
5731000119108 |Congenital osteodystrophy (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 272673000 |Bone structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
178344018 - Keratan sulfaturia (en) View
178344018	en	Synonym (core metadata concept)	Keratan sulfaturia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
486816013 - Keratan sulphaturia (en) View
486816013	en	Synonym (core metadata concept)	Keratan sulphaturia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
177745017 - Chondro-osteodystrophy (en) View
177745017	en	Synonym (core metadata concept)	Chondro-osteodystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
177749011 - Atypical chondrodystrophy (en) View
177749011	en	Synonym (core metadata concept)	Atypical chondrodystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
178342019 - Chondrodystrophia tarda (en) View
178342019	en	Synonym (core metadata concept)	Chondrodystrophia tarda	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
178343012 - Familial osseous dystrophy (en) View
178343012	en	Synonym (core metadata concept)	Familial osseous dystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
178195010 - Familial osteochondrodystrophy (en) View
178195010	en	Synonym (core metadata concept)	Familial osteochondrodystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
178340010 - Hereditary enchondral dysostosis (en) View
178340010	en	Synonym (core metadata concept)	Hereditary enchondral dysostosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
177748015 - Osteochondrodystrophia deformans (en) View
177748015	en	Synonym (core metadata concept)	Osteochondrodystrophia deformans	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
486814011 - Osteochondrodystrophy (en) View
486814011	en	Synonym (core metadata concept)	Osteochondrodystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
178166018 - Osteochondrodysplasia (en) View
178166018	en	Synonym (core metadata concept)	Osteochondrodysplasia	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
769710010 - Morquio syndrome (disorder) (en) View
769710010	en	Fully specified name (core metadata concept)	Morquio syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
178196011 - Brailsford-Morquio syndrome (en) View
178196011	en	Synonym (core metadata concept)	Brailsford-Morquio syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
486813017 - Morquio-Brailsford disease (en) View
486813017	en	Synonym (core metadata concept)	Morquio-Brailsford disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
178139018 - Morquio disease (en) View
178139018	en	Synonym (core metadata concept)	Morquio disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
178341014 - Morquio disease, NOS (en) View
178341014	en	Synonym (core metadata concept)	Morquio disease, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
177746016 - Morquio-Suarez syndrome (en) View
177746016	en	Synonym (core metadata concept)	Morquio-Suarez syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
170353012 - Morquio syndrome (en) View
170353012	en	Synonym (core metadata concept)	Morquio syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
178167010 - Morquio syndrome, NOS (en) View
178167010	en	Synonym (core metadata concept)	Morquio syndrome, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
177747013 - Morquio-Ullrich disease (en) View
177747013	en	Synonym (core metadata concept)	Morquio-Ullrich disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
199284013 - Mucopolysaccharidosis, MPS-IV (en) View
199284013	en	Synonym (core metadata concept)	Mucopolysaccharidosis, MPS-IV	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
486815012 - Mucopolysaccharidosis type IV (en) View
486815012	en	Synonym (core metadata concept)	Mucopolysaccharidosis type IV	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
178138014 - Osteochondrodysplasia, NOS (en) View
178138014	en	Synonym (core metadata concept)	Osteochondrodysplasia, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (209428021) - 378007 -> 12010005 (116680003) View
116680003 \|Is a (attribute)\|	12010005 \|Osteodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (766369028) - 378007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12080626021) - 378007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12080627028) - 378007 -> 5731000119108 (116680003) View
116680003 \|Is a (attribute)\|	5731000119108 \|Congenital osteodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2546605027) - 378007 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (766370027) - 378007 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (766373025) - 378007 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2546604028) - 378007 -> 363039000 (116680003) View
116680003 \|Is a (attribute)\|	363039000 \|Congenital connective tissue disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3000477026) - 378007 -> 362975008 (116680003) View
116680003 \|Is a (attribute)\|	362975008 \|Degenerative disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4974575024) - 378007 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4974576020) - 378007 -> 272673000 (363698007) View
363698007 \|Finding site (attribute)\|	272673000 \|Bone structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (766371028) - 378007 -> 61496007 (363698007) View
363698007 \|Finding site (attribute)\|	61496007 \|Cartilaginous tissue structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1674068024) - 378007 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (209429029) - 378007 -> 8447006 (116680003) View
116680003 \|Is a (attribute)\|	8447006 \|Congenital anomaly of skeletal bone (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (209431022) - 378007 -> 67988000 (116680003) View
116680003 \|Is a (attribute)\|	67988000 \|Congenital anomaly of cartilage (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (766372024) - 378007 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (209425024) - 378007 -> 11380006 (116680003) View
116680003 \|Is a (attribute)\|	11380006 \|Mucopolysaccharidosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (209426020) - 378007 -> 50279003 (116680003) View
116680003 \|Is a (attribute)\|	50279003 \|Metabolic bone disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (209427027) - 378007 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (209430023) - 378007 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
5731000119108 View
5731000119108	Congenital osteodystrophy (disorder)	Congenital osteodystrophy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
11380006 View
11380006	Mucopolysaccharidosis (disorder)	Mucopolysaccharidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
50279003 View
50279003	Metabolic bone disease (disorder)	Metabolic bone disease	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
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
7259005 View
7259005	Mucopolysaccharidosis iv-a (disorder)	Morquio syndrome a	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238044004 View
238044004	Mucopolysaccharidosis type ivb (disorder)	Morquio b 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 (29ff04c1-cf34-5cd7-9150-4e73d8cdf613) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E76.2	TRUE	ALWAYS E76.2	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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