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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\Glycoprotein metabolism disorder\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\I-cell disease
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\I-cell disease
\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
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group\I-cell disease
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\I-cell disease
\Disease\Disorder of body system\Musculoskeletal disorder\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\Glycoprotein metabolism disorder\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\I-cell disease
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\I-cell disease
\Disease\Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\I-cell disease
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\I-cell disease

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

Descriptions:

Id Description Lang Type Status Case? Module

116594013 I-cell disease en Synonym Active Case sensitive SNOMED CT core
116595014 Mucolipidosis II en Synonym Active Initial character case insensitive SNOMED CT core
116596010 N-acetylglucosamine-1-phosphotransferase deficiency en Synonym Active Case sensitive SNOMED CT core
501512013 I-cell - Inclusion cell disease en Synonym Active Case sensitive SNOMED CT core
501513015 Mucolipidosis type II en Synonym Active Initial character case insensitive SNOMED CT core
501514014 N-Acetylglucosamine-1-phosphotransferase deficiency en Synonym Inactive Case sensitive SNOMED CT core
810228019 I-cell disease (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pseudo-Hurler polydystrophy	Is a	True	I-cell disease	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
116594013	I-cell disease	en	Synonym	Active	Case sensitive	SNOMED CT core
116595014	Mucolipidosis II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
116596010	N-acetylglucosamine-1-phosphotransferase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
501512013	I-cell - Inclusion cell disease	en	Synonym	Active	Case sensitive	SNOMED CT core
501513015	Mucolipidosis type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
501514014	N-Acetylglucosamine-1-phosphotransferase deficiency	en	Synonym	Inactive	Case sensitive	SNOMED CT core
810228019	I-cell disease (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core