279081001: groep van dysostosis multiplex (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
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Dysostosis multiplex group
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group
\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
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Dysostosis multiplex group
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Dysostosis multiplex group
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group
\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
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme\Dysostosis multiplex group
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group
\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
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Dysostosis multiplex group
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Dysostosis multiplex group
\Disease\Metabolic disease\Metabolic bone disease\Dysostosis multiplex group
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis multiplex group
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Dysostosis multiplex group
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group

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
Dysostosis multiplex group	Is a	Disorder of lysosomal enzyme	true	Inferred relationship	Some
Dysostosis multiplex group	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Dysostosis multiplex group	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Dysostosis multiplex group	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Dysostosis multiplex group	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Dysostosis multiplex group	Occurrence	Congenital	false	Inferred relationship	Some
Dysostosis multiplex group	Finding site	Bone structure	true	Inferred relationship	Some	1
Dysostosis multiplex group	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Dysostosis multiplex group	Is a	Metabolic bone disease	true	Inferred relationship	Some
Dysostosis multiplex group	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Dysostosis multiplex group	Finding site	Bone structure	false	Inferred relationship	Some	1
Dysostosis multiplex group	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Dysostosis multiplex group	Occurrence	Congenital	false	Inferred relationship	Some	2
Dysostosis multiplex group	Finding site	Bone structure	false	Inferred relationship	Some	2
Dysostosis multiplex group	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Dysostosis multiplex group	Occurrence	Congenital	true	Inferred relationship	Some	1
Dysostosis multiplex group	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Dysostosis multiplex group	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Dysostosis multiplex group	Is a	Developmental hereditary disorder	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
GM1 gangliosidosis	Is a	True	Dysostosis multiplex group	Inferred relationship	Some
Ganglioside sialidase deficiency	Is a	False	Dysostosis multiplex group	Inferred relationship	Some
Sialic storage disease	Is a	True	Dysostosis multiplex group	Inferred relationship	Some
Combined deficiency of sialidase AND beta galactosidase	Is a	True	Dysostosis multiplex group	Inferred relationship	Some
Aspartylglucosaminuria	Is a	False	Dysostosis multiplex group	Inferred relationship	Some
Fucosidosis	Is a	False	Dysostosis multiplex group	Inferred relationship	Some
Mannosidosis	Is a	True	Dysostosis multiplex group	Inferred relationship	Some
I-cell disease	Is a	True	Dysostosis multiplex group	Inferred relationship	Some
Dysostosis multiplex	Is a	True	Dysostosis multiplex group	Inferred relationship	Some
Mucopolysaccharidosis-like plus disease	Is a	True	Dysostosis multiplex group	Inferred relationship	Some

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
416203012	Dysostosis multiplex group	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
672320018	Dysostosis multiplex group (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
8205571000146113	groep van dysostosis multiplex	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8205581000146110	groep van dysostosis multiplex (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)