279081001: Dysostosis multiplex group (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
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group
\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
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital 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\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dysostosis multiplex group
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Dysostosis multiplex group
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group
\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
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Dysostosis multiplex group
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital 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\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Dysostosis multiplex group
\Disease\Metabolic disease\Metabolic bone disease\Dysostosis multiplex group
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis multiplex group
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Dysostosis multiplex group
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group
\Disease\Developmental disorder\Developmental hereditary disorder\Dysostosis multiplex group
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital 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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

416203012 Dysostosis multiplex group en Synonym Active Entire term case insensitive SNOMED CT core module

672320018 Dysostosis multiplex group (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysostosis multiplex group	Is a	Disorder of lysosomal enzyme	true	Inferred relationship	Existential restriction modifier
Dysostosis multiplex group	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Dysostosis multiplex group	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Dysostosis multiplex group	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Dysostosis multiplex group	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Dysostosis multiplex group	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Dysostosis multiplex group	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Dysostosis multiplex group	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Dysostosis multiplex group	Is a	Metabolic bone disease	true	Inferred relationship	Existential restriction modifier
Dysostosis multiplex group	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Dysostosis multiplex group	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Dysostosis multiplex group	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Dysostosis multiplex group	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Dysostosis multiplex group	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Dysostosis multiplex group	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Dysostosis multiplex group	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Dysostosis multiplex group	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Dysostosis multiplex group	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Dysostosis multiplex group	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

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

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
416203012	Dysostosis multiplex group	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
672320018	Dysostosis multiplex group (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module