238047006: Beta-D-mannosidosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Beta-D-mannosidosis
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\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 foetus and/or newborn\Congenital disease (disorder)\Congenital hearing disorder\Beta-D-mannosidosis
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Beta-D-mannosidosis
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Beta-D-mannosidosis
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme\Oligosaccharidosis (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 (disorder)\Beta-D-mannosidosis
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Beta-D-mannosidosis
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Beta-D-mannosidosis
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\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 (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	Is a	Mannosidosis	false	Inferred relationship	Some
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
Beta-D-mannosidosis	Finding site	Bone structure	false	Inferred relationship	Some	1
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	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	true	Inferred relationship	Some	1
Beta-D-mannosidosis	Pathological process (attribute)	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 (disorder)	true	Inferred relationship	Some
Beta-D-mannosidosis	Has interpretation	Decreased	true	Inferred relationship	Some	2
Beta-D-mannosidosis	Is a	Decreased hearing (finding)	true	Inferred relationship	Some
Beta-D-mannosidosis	Is a	Developmental delay	true	Inferred relationship	Some
Beta-D-mannosidosis	Finding site	Structure of auditory system (body structure)	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

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