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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Musculoskeletal finding\Musculoskeletal disorder\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\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Musculoskeletal finding\Musculoskeletal disorder\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\Glycoprotein metabolism disorder\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Disorder of body system\Musculoskeletal disorder\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\Glycoprotein metabolism disorder\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group\Mannosidosis\Mannosidosis, type I

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

103567013 Mannosidosis, type I en Synonym Active Initial character case insensitive SNOMED CT core

103568015 Mannosidosis infantile onset en Synonym Active Case insensitive SNOMED CT core

103569011 Mannosidosis, severe form en Synonym Active Case insensitive SNOMED CT core

1232315011 Infantile mannosidosis en Synonym Active Case insensitive SNOMED CT core

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mannosidosis, type I	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Mannosidosis, type I	Occurrence	Congenital	true	Inferred relationship	Some	1
Mannosidosis, type I	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Mannosidosis, type I	Is a	Mannosidosis	true	Inferred relationship	Some
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	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	false	Inferred relationship	Some
Mannosidosis, type I	Associated morphology	Dysplasia	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
103567013	Mannosidosis, type I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
103568015	Mannosidosis infantile onset	en	Synonym	Active	Case insensitive	SNOMED CT core
103569011	Mannosidosis, severe form	en	Synonym	Active	Case insensitive	SNOMED CT core
1232315011	Infantile mannosidosis	en	Synonym	Active	Case insensitive	SNOMED CT core
801470013	Mannosidosis, type I (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core