65764006: Pseudo-Hurler polydystrophy (disorder)

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

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

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

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
Pseudo-Hurler polydystrophy	Is a	I-cell disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Pseudo-Hurler polydystrophy	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pseudo-Hurler polydystrophy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Pseudo-Hurler polydystrophy	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pseudo-Hurler polydystrophy	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pseudo-Hurler polydystrophy	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pseudo-Hurler polydystrophy	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pseudo-Hurler polydystrophy	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pseudo-Hurler polydystrophy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pseudo-Hurler polydystrophy	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pseudo-Hurler polydystrophy	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pseudo-Hurler polydystrophy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pseudo-Hurler polydystrophy	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
109251012	Pseudo-Hurler polydystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
109252017	Mucolipidosis III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
109253010	Pseudo-Hurler disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
805303019	Pseudo-Hurler polydystrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1232722017	Pseudo-Hurler's disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
109251012	Pseudo-Hurler polydystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
109252017	Mucolipidosis III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
109253010	Pseudo-Hurler disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
805303019	Pseudo-Hurler polydystrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1232722017	Pseudo-Hurler's disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3430431001000117	Mukolipidose Typ III	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6924811000241115	polydystrophie pseudo-Hurler	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6924811000241115	polydystrophie pseudo-Hurler	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3430431001000117	Mukolipidose Typ III	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module