62311004: Mannosidosis, type I (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\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\Metabolic bone disease\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital 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\Mannosidosis\Mannosidosis, type I
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Mannosidosis\Mannosidosis, type I
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dysostosis multiplex group\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\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital 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 of bone development\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\Metabolic bone disease\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital 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\Mannosidosis\Mannosidosis, type I
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Mannosidosis\Mannosidosis, type I
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis\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\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis\Mannosidosis\Mannosidosis, type I
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Oligosaccharidosis\Mannosidosis\Mannosidosis, type I
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Developmental disorder\Developmental hereditary disorder\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital 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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

103567013 Mannosidosis, type I en Synonym Active Only initial character case insensitive SNOMED CT core module

103568015 Mannosidosis infantile onset en Synonym Active Entire term case insensitive SNOMED CT core module

103569011 Mannosidosis, severe form en Synonym Active Entire term case insensitive SNOMED CT core module

801470013 Mannosidosis, type I (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

1232315011 Infantile mannosidosis en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mannosidosis, type I	Is a	Mannosidosis	true	Inferred relationship	Existential restriction modifier
Mannosidosis, type I	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Mannosidosis, type I	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Mannosidosis, type I	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Mannosidosis, type I	Severity	Severe	false	Inferred relationship	Existential restriction modifier
Mannosidosis, type I	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Mannosidosis, type I	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Mannosidosis, type I	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Mannosidosis, type I	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Mannosidosis, type I	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Mannosidosis, type I	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Mannosidosis, type I	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Mannosidosis, type I	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Mannosidosis, type I	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	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	Active	Only initial character case insensitive	SNOMED CT core module
103568015	Mannosidosis infantile onset	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
103569011	Mannosidosis, severe form	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
801470013	Mannosidosis, type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
1232315011	Infantile mannosidosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module