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70199000: I-cell disease (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

Descriptions:

Id Description Lang Type Status Case? Module

116594013 I-cell disease en Synonym Active Entire term case sensitive SNOMED CT core module

116595014 Mucolipidosis II en Synonym Active Only initial character case insensitive SNOMED CT core module

116596010 N-acetylglucosamine-1-phosphotransferase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

501512013 I-cell - Inclusion cell disease en Synonym Active Entire term case sensitive SNOMED CT core module

501513015 Mucolipidosis type II en Synonym Active Only initial character case insensitive SNOMED CT core module

810228019 I-cell disease (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
I-cell disease	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
I-cell disease	Is a	Mucolipidosis	true	Inferred relationship	Existential restriction modifier
I-cell disease	Is a	Disorder of glycoprotein metabolism	true	Inferred relationship	Existential restriction modifier
I-cell disease	Is a	Lipid storage disease	true	Inferred relationship	Existential restriction modifier
I-cell disease	Is a	Dysostosis multiplex group	true	Inferred relationship	Existential restriction modifier
I-cell disease	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
I-cell disease	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
I-cell disease	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
I-cell disease	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
I-cell disease	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
I-cell disease	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
I-cell disease	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
I-cell disease	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
I-cell disease	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
I-cell disease	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
I-cell disease	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
I-cell disease	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pseudo-Hurler polydystrophy	Is a	True	I-cell disease	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
116594013	I-cell disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
116595014	Mucolipidosis II	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
116596010	N-acetylglucosamine-1-phosphotransferase deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
501512013	I-cell - Inclusion cell disease	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
501513015	Mucolipidosis type II	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
810228019	I-cell disease (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module