70199000: I-cell disease (disorder)

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

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

\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\Lysosomal storage disease (disorder)\Mucolipidosis\I-cell disease
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\I-cell disease
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\I-cell disease
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\I-cell disease
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\I-cell disease
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\I-cell disease
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\I-cell disease
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucolipidosis\I-cell disease
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme\Dysostosis multiplex group\I-cell disease
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme\Mucolipidosis\I-cell disease
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme\Lipid storage disease\I-cell disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\I-cell disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\I-cell disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\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)\Disorder of bone development (disorder)\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 (disorder)\Metabolic bone disease\Dysostosis multiplex group\I-cell disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\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\Lysosomal storage disease (disorder)\Mucolipidosis\I-cell disease
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Mucolipidosis\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\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\I-cell disease
\Disease\Developmental disorder\Developmental hereditary disorder\I-cell disease
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\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 (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

116594013 I-cell disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

116595014 Mucolipidosis II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

116596010 N-acetylglucosamine-1-phosphotransferase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

501512013 I-cell - Inclusion cell disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

501513015 Mucolipidosis type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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	Disorder of glycoprotein metabolism	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	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
I-cell disease	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
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	Occurrence	Congenital	true	Inferred relationship	Some	1
I-cell disease	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
I-cell disease	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
I-cell disease	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some

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

This concept is not in any reference sets

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