65764006: Pseudo-Hurler polydystrophy (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucolipidosis\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Metabolic disease\Metabolic bone disease\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipid storage disease\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Developmental disorder\Developmental hereditary disorder\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy

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

Descriptions:

Id Description Lang Type Status Case? Module

109251012 Pseudo-Hurler polydystrophy en Synonym Active Initial character case insensitive SNOMED CT core

109252017 Mucolipidosis III en Synonym Active Initial character case insensitive SNOMED CT core

109253010 Pseudo-Hurler disease en Synonym Active Initial character case insensitive SNOMED CT core

1232722017 Pseudo-Hurler's disease en Synonym Active Initial character case insensitive SNOMED CT core

805303019 Pseudo-Hurler polydystrophy (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pseudo-Hurler polydystrophy	Occurrence	Congenital	true	Inferred relationship	Some	1
Pseudo-Hurler polydystrophy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Pseudo-Hurler polydystrophy	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Pseudo-Hurler polydystrophy	Is a	I-cell disease	true	Inferred relationship	Some
Pseudo-Hurler polydystrophy	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Pseudo-Hurler polydystrophy	Finding site	Bone structure	false	Inferred relationship	Some	1
Pseudo-Hurler polydystrophy	Occurrence	Congenital	false	Inferred relationship	Some	2
Pseudo-Hurler polydystrophy	Finding site	Bone structure	false	Inferred relationship	Some	2
Pseudo-Hurler polydystrophy	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Pseudo-Hurler polydystrophy	Finding site	Bone structure	true	Inferred relationship	Some	1
Pseudo-Hurler polydystrophy	Occurrence	Congenital	false	Inferred relationship	Some
Pseudo-Hurler polydystrophy	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Pseudo-Hurler polydystrophy	Associated morphology	Dysplasia	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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
109251012	Pseudo-Hurler polydystrophy	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
109252017	Mucolipidosis III	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
109253010	Pseudo-Hurler disease	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
1232722017	Pseudo-Hurler's disease	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
805303019	Pseudo-Hurler polydystrophy (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core