272673000: Bone structure (body structure)

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
Bone structure	Is a	Body organ structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Bone structure	Is a	Bone and/or joint structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Bone structure	partie de	Entire body as a whole (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Bone structure	Is a	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Bone structure	partie de	Entire musculoskeletal system	false	Additional relationship (core metadata concept)	Existential restriction modifier (core metadata concept)
Bone structure	Is a	Connective tissue structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Bone structure	Is a	Structure of bone organ	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Bone structure	Is a	Bony skeleton subdivision	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Brachyolmia - Maroteaux type (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Short rib dysplasia (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachyolmia (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Metaphyseal chondrodysplasia, Spahr type	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Omodysplasia I	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Sialic storage disease	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported.	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Precocious osteodysplasty (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteogenesis imperfecta, type IV A (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Craniodiaphyseal dysplasia	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Schneckenbecken dysplasia	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Achondroplasia	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Nievergelt's syndrome	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cherubism with gingival fibromatosis (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare congenital disorder of bone resorption characterised by generalised skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive.	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Metaphyseal chondrodysplasia, Sedaghatian type (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteogenesis imperfecta	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Osteopetrosis - unclassified	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Melorheostosis	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hereditary acroosteolysis (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Otospondylomegaepiphyseal dysplasia	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteogenesis imperfecta type I (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Stuve-Wiedemann dysplasia	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Sialic acid storage disease, severe infantile type	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondylometaphyseal dysplasia - Sutcliffe type	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Fronto-naso-ethmoidal dysostosis	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypochondroplasia	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Immuno-osseous dysplasia (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Chondrodysplasia punctata	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital absence of skeletal bone	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Geroderma osteodysplastica	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteoglophonic dysplasia	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Beals auriculo-osteodysplasia syndrome	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachyrachia (short spine dysplasia)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oto-palato-digital syndrome, type I	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive spondyloepimetaphyseal dysplasia	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteogenesis imperfecta type IV (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondylodysplastic group (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pseudohypoparathyroidism type II (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
pseudochondroplasie	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pyknodysostosis (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Chondrodysplasia punctata, MT type	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bent bone dysplasia group	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dermatofibrosis lenticularis disseminata	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chondrodysplasia punctata, X-linked dominant type (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Desbuquois syndrome	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acrodysostosis	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Brachydactyly syndrome type B (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Idiopathic multicentric osteolysis	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Sponastrime dysplasia (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Atelosteogenesis type 2	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait.	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Achondrogenesis, type II (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondyloepiphyseal dysplasia with joint laxity (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Namaqualand hip dysplasia	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteodysplastic primordial dwarfism, type 1	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Symphalangism-brachydactyly syndrome	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteogenesis imperfecta type IIA	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteodysplastic primordial dwarfism, type 2	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Yunis-Varon dysplasia (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital exostosis	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly syndrome type C	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dysostosis multiplex	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mixed sclerosing bone dysplasia (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Type III short rib polydactyly syndrome	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Short rib polydactyly syndrome	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Diaphyseal medullary stenosis with bone malignancy (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Defects of the tubular (and flat) bones and/or axial skeleton	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lenz-Majewski hyperostosis syndrome (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypochondrogenesis	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteopathia striata	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Polyostotic fibrous dysplasia of bone	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Kniest dysplasia	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Shwachman syndrome	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Jarcho-Levin syndrome	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysplasia epiphysealis hemimelica (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteochondrodysplasia	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Benign autosomal dominant osteopetrosis	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Nail-patella syndrome (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteodysplastic primordial dwarfism	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Boomerang dysplasia	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Multiple epiphyseal dysplasia tarda type IIIa	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Chondrodysplasia punctata, Conradi-Hünermann type	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Combined deficiency of sialidase AND beta galactosidase	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteopetrosis - intermediate type	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pachydermoperiostosis - familial	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteogenesis imperfecta, recessive perinatal lethal	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dappled diaphyseal dysplasia (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Atelosteogenesis	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Adult fucosidosis	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Fronto-frontal dysostosis	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Osteogenesis imperfecta, type IV B	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Leri's pleonosteosis syndrome	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Metaphyseal chondrodysplasia	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondyloepiphyseal dysplasia tarda	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondylodysplasia, Luton type	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Thanatophoric dysplasia, type 1 (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
407865012	Bone structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
665231017	Bone structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
407865012	Bone structure	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
407865012	Bone structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
665231017	Bone structure (body structure)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
665231017	Bone structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
275241000077116	structure osseuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
925831000172115	ossa	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
992971000172114	os	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
275241000077116	structure osseuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
925831000172115	ossa	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
992971000172114	os	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module