238047006: Beta-D-mannosidosis (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Beta-D-mannosidosis
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\Congenital hearing disorder\Beta-D-mannosidosis
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Beta-D-mannosidosis
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Beta-D-mannosidosis
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Beta-D-mannosidosis
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Decreased hearing\Beta-D-mannosidosis

\constatation fonctionnelle\Decline in functional status (finding)\Decreased hearing\Beta-D-mannosidosis
\constatation fonctionnelle\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Beta-D-mannosidosis
\constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Beta-D-mannosidosis
\constatation fonctionnelle\constatation sur l'audition\Decreased hearing\Beta-D-mannosidosis

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Beta-D-mannosidosis
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Beta-D-mannosidosis
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Beta-D-mannosidosis
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Beta-D-mannosidosis
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Beta-D-mannosidosis
\Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Beta-D-mannosidosis
\Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Beta-D-mannosidosis
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\Congenital hearing disorder\Beta-D-mannosidosis
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Beta-D-mannosidosis
\Disease\trouble métabolique\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Beta-D-mannosidosis
\Disease\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Beta-D-mannosidosis
\Disease\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Beta-D-mannosidosis
\Disease\Congenital disease\Congenital hearing disorder\Beta-D-mannosidosis
\Disease\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Beta-D-mannosidosis
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Beta-D-mannosidosis
\Disease\trouble du développement\Developmental hereditary disorder\Beta-D-mannosidosis
\Disease\trouble du développement\retard de développement\Beta-D-mannosidosis

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

356823018 Beta-D-mannosidosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

356824012 Beta-mannosidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626875016 Beta-D-mannosidosis (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4570371010 A very rare lysosomal storage disease with characteristics of developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Beta-D-mannosidosis	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Beta-D-mannosidosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Beta-D-mannosidosis	est un(e) (attribut)	Auditory system hereditary disorder	true	Inferred relationship	Some
Beta-D-mannosidosis	est un(e) (attribut)	Oligosaccharidosis (disorder)	true	Inferred relationship	Some
Beta-D-mannosidosis	a pour interprétation (attribut)	Decreased	true	Inferred relationship	Some	2
Beta-D-mannosidosis	est un(e) (attribut)	Decreased hearing	true	Inferred relationship	Some
Beta-D-mannosidosis	est un(e) (attribut)	retard de développement	true	Inferred relationship	Some
Beta-D-mannosidosis	localisation d'une constatation (attribut)	structure du système auditif	true	Inferred relationship	Some	1
Beta-D-mannosidosis	est un(e) (attribut)	Congenital hearing disorder	true	Inferred relationship	Some
Beta-D-mannosidosis	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Beta-D-mannosidosis	interprète (attribut)	Hearing, function (observable entity)	true	Inferred relationship	Some	2
Beta-D-mannosidosis	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Beta-D-mannosidosis	est un(e) (attribut)	perte auditive (trouble)	true	Inferred relationship	Some
Beta-D-mannosidosis	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Beta-D-mannosidosis	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Beta-D-mannosidosis	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Beta-D-mannosidosis	morphologie associée (attribut)	dysplasie	false	Inferred relationship	Some	1
Beta-D-mannosidosis	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Beta-D-mannosidosis	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Beta-D-mannosidosis	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Beta-D-mannosidosis	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Beta-D-mannosidosis	survenue (attribut)	congénital	false	Inferred relationship	Some
Beta-D-mannosidosis	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Beta-D-mannosidosis	est un(e) (attribut)	Mannosidosis	false	Inferred relationship	Some

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
356823018	Beta-D-mannosidosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356824012	Beta-mannosidase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626875016	Beta-D-mannosidosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4570371010	A very rare lysosomal storage disease with characteristics of developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core