27642008: Dysmorphic sialidosis, congenital form (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du mouvement\Movement disorder\Myoclonic disorder\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis, congenital form

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis, congenital form
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Dysmorphic sialidosis, congenital form
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis, congenital form
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis, congenital form
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis, congenital form
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis, congenital form
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis, congenital form
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis, congenital form
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis, congenital form
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Myoclonic disorder\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis, congenital form
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Dysmorphic sialidosis, congenital form
\Disease\trouble métabolique\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis, congenital form
\Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis, congenital form
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis, congenital form
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis, congenital form
\Disease\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis, congenital form
\Disease\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Mucolipidosis\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis, congenital form
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Dysmorphic sialidosis, congenital form
\Disease\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis, congenital form
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis, congenital form
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis, congenital form
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis, congenital form
\Disease\Movement disorder\Myoclonic disorder\sialidose\Dysmorphic sialidosis (disorder)\Dysmorphic sialidosis, congenital form
\Disease\trouble du développement\Developmental hereditary disorder\Dysmorphic sialidosis, congenital form
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Dysmorphic sialidosis, congenital form

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

46272012 Dysmorphic sialidosis, congenital form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

758233019 Dysmorphic sialidosis, congenital form (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysmorphic sialidosis, congenital form	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Dysmorphic sialidosis, congenital form	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Dysmorphic sialidosis, congenital form	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
Dysmorphic sialidosis, congenital form	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Dysmorphic sialidosis, congenital form	localisation d'une constatation (attribut)	système nerveux	true	Inferred relationship	Some	1
Dysmorphic sialidosis, congenital form	est un(e) (attribut)	Congenital anomaly of nervous system	true	Inferred relationship	Some
Dysmorphic sialidosis, congenital form	interprète (attribut)	Movement (observable entity)	true	Inferred relationship	Some	2
Dysmorphic sialidosis, congenital form	est un(e) (attribut)	Dysmorphic sialidosis (disorder)	true	Inferred relationship	Some
Dysmorphic sialidosis, congenital form	localisation d'une constatation (attribut)	Muscle structure	false	Inferred relationship	Some
Dysmorphic sialidosis, congenital form	localisation d'une constatation (attribut)	système nerveux	false	Inferred relationship	Some	3
Dysmorphic sialidosis, congenital form	localisation d'une constatation (attribut)	Muscle tissue	false	Inferred relationship	Some
Dysmorphic sialidosis, congenital form	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	1
Dysmorphic sialidosis, congenital form	localisation d'une constatation (attribut)	structure de l'encéphale	false	Inferred relationship	Some
Dysmorphic sialidosis, congenital form	survenue (attribut)	congénital	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
46272012	Dysmorphic sialidosis, congenital form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
758233019	Dysmorphic sialidosis, congenital form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core