58112007: alfa-mannosidose type 2 (aandoening)

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

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

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 II (disorder)	Is a	Mannosidosis	true	Inferred relationship	Some
Mannosidosis, type II (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Mannosidosis, type II (disorder)	Severity	Mild	false	Inferred relationship	Some
Mannosidosis, type II (disorder)	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Mannosidosis, type II (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Mannosidosis, type II (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Mannosidosis, type II (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Mannosidosis, type II (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Mannosidosis, type II (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Mannosidosis, type II (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Mannosidosis, type II (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Mannosidosis, type II (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Mannosidosis, type II (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Mannosidosis, type II (disorder)	Pathological process (attribute)	Pathological developmental process	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
96576013	Mannosidosis, type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
96577016	Mannosidosis, juvenile-adult onset	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
96578014	Mannosidosis, mild form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
796809018	Mannosidosis, type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1231806011	Juvenile mannosidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7026711000146113	alfa-mannosidose type 2 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7026721000146115	alfa-mannosidose type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7904201000146112	volwassen vorm van alfa-mannosidose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)