65764006: Pseudo-Hurler polydystrophy (disorder)

SNOMED CT Concept\constatation clinique\...

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of glycoprotein metabolism\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\maladie de surchage lipidique\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\trouble métabolique\Inborn error of metabolism\Disorder of glycoprotein metabolism\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\maladie de surchage lipidique\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Mucolipidosis\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\maladie de surchage lipidique\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\trouble métabolique\maladie métabolique de l'os\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\maladie de surchage lipidique\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\Congenital disease\Congenital malformation\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\Disorder of glycoprotein metabolism\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\maladie de surchage lipidique\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\trouble du développement\Developmental hereditary disorder\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\I-cell disease\Pseudo-Hurler polydystrophy
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\I-cell disease\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	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Pseudo-Hurler polydystrophy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Pseudo-Hurler polydystrophy	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Pseudo-Hurler polydystrophy	est un(e) (attribut)	I-cell disease	true	Inferred relationship	Some
Pseudo-Hurler polydystrophy	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Pseudo-Hurler polydystrophy	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Pseudo-Hurler polydystrophy	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Pseudo-Hurler polydystrophy	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Pseudo-Hurler polydystrophy	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Pseudo-Hurler polydystrophy	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Pseudo-Hurler polydystrophy	survenue (attribut)	congénital	false	Inferred relationship	Some
Pseudo-Hurler polydystrophy	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Pseudo-Hurler polydystrophy	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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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
1232722017	Pseudo-Hurler's 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