279081001: Dysostosis multiplex group (disorder)

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\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 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 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:

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

2246721000005118 Dysostosis multiplex-gruppen da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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	kongenit dysplasi	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	false	Inferred relationship	Some
Dysostosis multiplex group	Finding site	Bone structure	false	Inferred relationship	Some	1
Dysostosis multiplex group	Associated morphology	kongenit dysplasi	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	kongenit dysplasi	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
Mukolipidose IV	Is a	False	Dysostosis multiplex group	Inferred relationship	Some
Sialic storage disease (disorder)	Is a	True	Dysostosis multiplex group	Inferred relationship	Some
A lysosomal storage disease with characteristics of coarse facial features, macular cherry red spot, and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.	Is a	True	Dysostosis multiplex group	Inferred relationship	Some
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	Some
Fucosidosis is an extremely rare lysosomal storage disorder with characteristics of a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.	Is a	False	Dysostosis multiplex group	Inferred relationship	Some
Mannosidosis (disorder)	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
A rare genetic disease characterized by early-onset respiratory difficulties and frequent respiratory infections, congenital heart defects, dysostosis multiplex, hepatosplenomegaly, renal involvement, hematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline), and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life.	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
2246721000005118	Dysostosis multiplex-gruppen	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)