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\Disorder of glycoprotein metabolism\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\Disorder of glycoprotein metabolism\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\Disorder of glycoprotein metabolism\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

356823018 Beta-D-mannosidosis en Synonym Active Only initial character case insensitive SNOMED CT core module

356824012 Beta-mannosidase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

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

Expanded Value Set

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

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	Active	Only initial character case insensitive	SNOMED CT core module
356824012	Beta-mannosidase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
626875016	Beta-D-mannosidosis (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module