238047006: Beta-D-mannosidosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Beta-D-mannosidosis
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Beta-D-mannosidosis
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Beta-D-mannosidosis
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Beta-D-mannosidosis
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Beta-D-mannosidosis
\Ear and auditory finding\Hearing finding\Decreased hearing\Beta-D-mannosidosis

\Functional finding\Decline in functional status\Decreased hearing\Beta-D-mannosidosis
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Beta-D-mannosidosis
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Beta-D-mannosidosis
\Functional finding\Hearing finding\Decreased hearing\Beta-D-mannosidosis

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Oligosaccharidosis\Beta-D-mannosidosis
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Beta-D-mannosidosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Beta-D-mannosidosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Beta-D-mannosidosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Beta-D-mannosidosis
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Beta-D-mannosidosis
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Beta-D-mannosidosis
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Beta-D-mannosidosis
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Beta-D-mannosidosis
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Oligosaccharidosis\Beta-D-mannosidosis
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Beta-D-mannosidosis
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis\Beta-D-mannosidosis
\Disease\Congenital disease\Congenital hearing disorder\Beta-D-mannosidosis
\Disease\Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Oligosaccharidosis\Beta-D-mannosidosis
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Beta-D-mannosidosis
\Disease\Developmental disorder\Developmental hereditary disorder\Beta-D-mannosidosis
\Disease\Developmental disorder\Developmental delay\Beta-D-mannosidosis

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

Descriptions:

Id Description Lang Type Status Case? Module

356823018 Beta-D-mannosidosis en Synonym Active Initial character case insensitive SNOMED CT core

356824012 Beta-mannosidase deficiency en Synonym Active Case insensitive SNOMED CT core

626875016 Beta-D-mannosidosis (disorder) en Fully specified name Active Initial character case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Beta-D-mannosidosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Beta-D-mannosidosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Beta-D-mannosidosis	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Beta-D-mannosidosis	Is a	Oligosaccharidosis	true	Inferred relationship	Some
Beta-D-mannosidosis	Has interpretation	Decreased	true	Inferred relationship	Some	2
Beta-D-mannosidosis	Is a	Decreased hearing	true	Inferred relationship	Some
Beta-D-mannosidosis	Is a	Developmental delay	true	Inferred relationship	Some
Beta-D-mannosidosis	Finding site	Structure of auditory system	true	Inferred relationship	Some	1
Beta-D-mannosidosis	Is a	Congenital hearing disorder	true	Inferred relationship	Some
Beta-D-mannosidosis	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Beta-D-mannosidosis	Interprets	Hearing	true	Inferred relationship	Some	2
Beta-D-mannosidosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Beta-D-mannosidosis	Is a	Hearing loss	true	Inferred relationship	Some
Beta-D-mannosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Beta-D-mannosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Beta-D-mannosidosis	Finding site	Bone structure	false	Inferred relationship	Some	1
Beta-D-mannosidosis	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Beta-D-mannosidosis	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Beta-D-mannosidosis	Occurrence	Congenital	false	Inferred relationship	Some	2
Beta-D-mannosidosis	Finding site	Bone structure	false	Inferred relationship	Some	2
Beta-D-mannosidosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Beta-D-mannosidosis	Occurrence	Congenital	false	Inferred relationship	Some
Beta-D-mannosidosis	Finding site	Bone structure	false	Inferred relationship	Some	1
Beta-D-mannosidosis	Is a	Mannosidosis	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
356823018	Beta-D-mannosidosis	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
356824012	Beta-mannosidase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
626875016	Beta-D-mannosidosis (disorder)	en	Fully specified name	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core