279081001: Dysostosis multiplex group (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Dysostosis multiplex group
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Dysostosis multiplex group
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis multiplex group

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group
\Disease\Disorder of foetus and/or newborn\Congenital disease\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 of lysosomal enzyme\Dysostosis multiplex group
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis multiplex group
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Dysostosis multiplex group
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\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 (disorder)\Dysostosis multiplex group
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis multiplex group
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis multiplex group
\Disease\Developmental disorder (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	Existential restriction modifier (core metadata concept)
Dysostosis multiplex group	Is a	Skeletal dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysostosis multiplex group	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysostosis multiplex group	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysostosis multiplex group	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysostosis multiplex group	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysostosis multiplex group	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysostosis multiplex group	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysostosis multiplex group	Is a	Metabolic bone disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysostosis multiplex group	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysostosis multiplex group	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysostosis multiplex group	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysostosis multiplex group	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysostosis multiplex group	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysostosis multiplex group	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysostosis multiplex group	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysostosis multiplex group	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysostosis multiplex group	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysostosis multiplex group	Is a	Developmental hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
GM1 gangliosidosis (disorder)	Is a	True	Dysostosis multiplex group	Inferred relationship	Existential restriction modifier (core metadata concept)
Ganglioside sialidase deficiency	Is a	False	Dysostosis multiplex group	Inferred relationship	Existential restriction modifier (core metadata concept)
Sialic storage disease	Is a	True	Dysostosis multiplex group	Inferred relationship	Existential restriction modifier (core metadata concept)
Combined deficiency of sialidase AND beta galactosidase	Is a	True	Dysostosis multiplex group	Inferred relationship	Existential restriction modifier (core metadata concept)
An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group. Clinical signs include slowly developing intellectual disability beginning with clumsiness, late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis. Caused by mutations in gene AGU located on 4q34.3. Transmission is autosomal recessive.	Is a	False	Dysostosis multiplex group	Inferred relationship	Existential restriction modifier (core metadata concept)
Fucosidosis	Is a	False	Dysostosis multiplex group	Inferred relationship	Existential restriction modifier (core metadata concept)
Mannosidosis	Is a	True	Dysostosis multiplex group	Inferred relationship	Existential restriction modifier (core metadata concept)
I-cell disease (disorder)	Is a	True	Dysostosis multiplex group	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysostosis multiplex	Is a	True	Dysostosis multiplex group	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis-like plus disease	Is a	True	Dysostosis multiplex group	Inferred relationship	Existential restriction modifier (core metadata concept)

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 (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
416203012	Dysostosis multiplex group	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
6092251000241110	groupe de dysostose multiple	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6092251000241110	groupe de dysostose multiple	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module