378007: Morquio syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\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\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Morquio syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\Morquio syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Degenerative disorder of bone\Osteodystrophy\Congenital osteodystrophy\Morquio syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Morquio syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Morquio syndrome
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Morquio syndrome
\Disease\Metabolic disease\Metabolic bone disease\Morquio syndrome
\Disease\Congenital disease\Congenital osteodystrophy\Morquio syndrome
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Morquio syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

170353012 Morquio syndrome en Synonym Active Case sensitive SNOMED CT core
177745017 Chondro-osteodystrophy en Synonym Active Case sensitive SNOMED CT core
177746016 Morquio-Suarez syndrome en Synonym Active Case sensitive SNOMED CT core
177747013 Morquio-Ullrich disease en Synonym Active Case sensitive SNOMED CT core
177748015 Osteochondrodystrophia deformans en Synonym Active Case insensitive SNOMED CT core
177749011 Atypical chondrodystrophy en Synonym Active Case insensitive SNOMED CT core
178138014 Osteochondrodysplasia, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
178139018 Morquio disease en Synonym Active Case sensitive SNOMED CT core
178166018 Osteochondrodysplasia en Synonym Inactive Initial character case insensitive SNOMED CT core
178167010 Morquio syndrome, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
178195010 Familial osteochondrodystrophy en Synonym Active Case insensitive SNOMED CT core
178196011 Brailsford-Morquio syndrome en Synonym Active Case sensitive SNOMED CT core
178340010 Hereditary enchondral dysostosis en Synonym Active Case insensitive SNOMED CT core
178341014 Morquio disease, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
178342019 Chondrodystrophia tarda en Synonym Active Case insensitive SNOMED CT core
178343012 Familial osseous dystrophy en Synonym Active Case insensitive SNOMED CT core
178344018 Keratan sulfaturia en Synonym Active Case sensitive SNOMED CT core
199284013 Mucopolysaccharidosis, MPS-IV en Synonym Active Initial character case insensitive SNOMED CT core
486813017 Morquio-Brailsford disease en Synonym Active Case sensitive SNOMED CT core
486814011 Osteochondrodystrophy en Synonym Active Case insensitive SNOMED CT core
486815012 Mucopolysaccharidosis type IV en Synonym Active Initial character case insensitive SNOMED CT core
486816013 Keratan sulphaturia en Synonym Active Case sensitive SNOMED CT core
769710010 Morquio syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Morquio syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Morquio syndrome	Is a	Congenital osteodystrophy	true	Inferred relationship	Some
Morquio syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
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	Is a	Congenital connective tissue disorder	false	Inferred relationship	Some
Morquio syndrome	Is a	Inherited disorder of connective tissue	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	false	Inferred relationship	Some	2
Morquio syndrome	Finding site	Bone structure	false	Inferred relationship	Some
Morquio syndrome	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Some
Morquio syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Some
Morquio syndrome	Associated morphology	Dystrophy	false	Inferred relationship	Some

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
170353012	Morquio syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
177745017	Chondro-osteodystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
177746016	Morquio-Suarez syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
177747013	Morquio-Ullrich disease	en	Synonym	Active	Case sensitive	SNOMED CT core
177748015	Osteochondrodystrophia deformans	en	Synonym	Active	Case insensitive	SNOMED CT core
177749011	Atypical chondrodystrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
178138014	Osteochondrodysplasia, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
178139018	Morquio disease	en	Synonym	Active	Case sensitive	SNOMED CT core
178166018	Osteochondrodysplasia	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
178167010	Morquio syndrome, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
178195010	Familial osteochondrodystrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
178196011	Brailsford-Morquio syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
178340010	Hereditary enchondral dysostosis	en	Synonym	Active	Case insensitive	SNOMED CT core
178341014	Morquio disease, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
178342019	Chondrodystrophia tarda	en	Synonym	Active	Case insensitive	SNOMED CT core
178343012	Familial osseous dystrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
178344018	Keratan sulfaturia	en	Synonym	Active	Case sensitive	SNOMED CT core
199284013	Mucopolysaccharidosis, MPS-IV	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
486813017	Morquio-Brailsford disease	en	Synonym	Active	Case sensitive	SNOMED CT core
486814011	Osteochondrodystrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
486815012	Mucopolysaccharidosis type IV	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
486816013	Keratan sulphaturia	en	Synonym	Active	Case sensitive	SNOMED CT core
769710010	Morquio syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core