62311004: Mannosidosis, type I (disorder)

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Mannosidosis\Mannosidosis, type I
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Mannosidosis\Mannosidosis, type I
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Mannosidosis\Mannosidosis, type I
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mannosidosis\Mannosidosis, type I
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Mannosidosis\Mannosidosis, type I
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Mannosidosis\Mannosidosis, type I
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Mannosidosis\Mannosidosis, type I
\Disease\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Mannosidosis\Mannosidosis, type I
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Mannosidosis\Mannosidosis, type I
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Metabolic disease\Metabolic bone disease\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Mannosidosis\Mannosidosis, type I
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Mannosidosis\Mannosidosis, type I
\Disease\Congenital disease (disorder)\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Mannosidosis\Mannosidosis, type I
\Disease\Congenital disease (disorder)\Disorder of lysosomal enzyme\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Developmental disorder\Developmental hereditary disorder\Mannosidosis\Mannosidosis, type I
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I

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
Mannosidosis, type I	Is a	Mannosidosis	true	Inferred relationship	Some
Mannosidosis, type I	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Mannosidosis, type I	Occurrence	Congenital	false	Inferred relationship	Some
Mannosidosis, type I	Finding site	Bone structure	true	Inferred relationship	Some	1
Mannosidosis, type I	Severity	Severe (severity modifier) (qualifier value)	false	Inferred relationship	Some
Mannosidosis, type I	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Mannosidosis, type I	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Mannosidosis, type I	Finding site	Bone structure	false	Inferred relationship	Some	1
Mannosidosis, type I	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Mannosidosis, type I	Occurrence	Congenital	false	Inferred relationship	Some	2
Mannosidosis, type I	Finding site	Bone structure	false	Inferred relationship	Some	2
Mannosidosis, type I	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Mannosidosis, type I	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Mannosidosis, type I	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
103567013	Mannosidosis, type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
103568015	Mannosidosis infantile onset	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
103569011	Mannosidosis, severe form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
801470013	Mannosidosis, type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1232315011	Infantile mannosidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7616251000172113	alpha-mannosidose de type I	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7616261000172110	alpha-mannosidose infantile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7616271000172118	déficit en alpha-D-mannosidase lysosomale infantile	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5482221000172116	infantiele vorm van alfa-mannosidose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5482231000172118	alfa-mannosidose type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)