70199000: I-cell disease (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
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Dysostosis multiplex group\I-cell disease
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\I-cell disease
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group\I-cell disease
\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
\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
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\I-cell disease
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\I-cell disease

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pseudo-Hurler polydystrophy	est un(e) (attribut)	True	I-cell disease	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

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