238047006: Beta-D-mannosidosis (disorder)

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

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\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.
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\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.
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\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.
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\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.
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\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.
\Ear and auditory finding\Hearing finding\Decreased hearing\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.

\Functional finding\Decline in functional status (finding)\Decreased hearing\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.
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\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.
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\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.
\Functional finding\Hearing finding\Decreased hearing\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.

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\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.
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\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.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\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.
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\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.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\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.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital hearing disorder\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.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\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.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\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.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\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.
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\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.
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\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.
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\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.
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\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.
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\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.
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\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.
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\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.
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\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.
\Disease\Developmental disorder\Developmental hereditary disorder\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.
\Disease\Developmental disorder\Developmental delay\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.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

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

Inbound Relationships

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Active

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Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
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
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
5812791000241113	bêta-D-mannosidose	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3452021001000113	Beta-Mannosidose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module