378007: mucopolysacharidose type 4 (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\Morquio syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Morquio syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Morquio syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\Morquio syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\Morquio syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Morquio syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Morquio syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Morquio syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Morquio syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital osteodystrophy\Morquio syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Morquio syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Morquio syndrome
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\Morquio syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Morquio syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Morquio syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\Morquio syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\Morquio syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Morquio syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Morquio syndrome
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Morquio syndrome
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Morquio syndrome
\Disease\Metabolic disease\Metabolic bone disease\Morquio syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Morquio syndrome	Is a	Mucopolysaccharidosis	true	Inferred relationship	Some
Morquio syndrome	Is a	Metabolic bone disease	true	Inferred relationship	Some
Morquio syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Morquio syndrome	Is a	Osteodystrophy	false	Inferred relationship	Some
Morquio syndrome	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Morquio syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Morquio syndrome	Is a	Congenital anomaly of cartilage	false	Inferred relationship	Some
Morquio syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Morquio syndrome	Finding site	Bone structure	false	Inferred relationship	Some
Morquio syndrome	Finding site	structuur van cartilago (lichaamsstructuur)	false	Inferred relationship	Some
Morquio syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Some
Morquio syndrome	Associated morphology	Dystrophy	false	Inferred relationship	Some
Morquio syndrome	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Morquio syndrome	Is a	Congenital connective tissue disorder	false	Inferred relationship	Some
Morquio syndrome	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Morquio syndrome	Is a	Degenerative disorder	false	Inferred relationship	Some
Morquio syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Morquio syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Morquio syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Morquio syndrome	Is a	Congenital osteodystrophy	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mucopolysaccharidosis, MPS-IV-B	Is a	True	Morquio syndrome	Inferred relationship	Some
Mucopolysaccharidosis, MPS-IV-A	Is a	True	Morquio syndrome	Inferred relationship	Some
Francois syndrome	Is a	False	Morquio syndrome	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
170353012	Morquio syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
177745017	Chondro-osteodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
177746016	Morquio-Suarez syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
177747013	Morquio-Ullrich disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
177748015	Osteochondrodystrophia deformans	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
177749011	Atypical chondrodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
178138014	Osteochondrodysplasia, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
178139018	Morquio disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
178166018	Osteochondrodysplasia	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
178167010	Morquio syndrome, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
178195010	Familial osteochondrodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
178196011	Brailsford-Morquio syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
178340010	Hereditary enchondral dysostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
178341014	Morquio disease, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
178342019	Chondrodystrophia tarda	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
178343012	Familial osseous dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
178344018	Keratan sulfaturia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
199284013	Mucopolysaccharidosis, MPS-IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
486813017	Morquio-Brailsford disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
486814011	Osteochondrodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
486815012	Mucopolysaccharidosis type IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
486816013	Keratan sulphaturia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
769710010	Morquio syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
336501000146115	syndroom van Morquio	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
336511000146118	mucopolysacharidose type 4	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
336521000146111	mucopolysacharidose type 4 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13079821000146114	Erfelijke stofwisselingsziekte gekenmerkt door skeletafwijkingen, oogproblemen en een grof gezicht; een van de vormen van mucopolysacharidose.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)