272673000: Bone structure (body structure)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\...

\An anatomical structure that consists of the maximal set of organ parts so connected to one another that together they constitute a self-contained unit of macroscopic anatomy, distinct both morphologically and functionally from other such units. Together with other organs, an organ constitutes an organ system or a body part. An organ is divisible into organ parts but not organs (examples: femur, biceps, liver, heart, aorta, sciatic nerve, ovary).\Structure of bone organ\Bone structure

\Body system structure\Structure of musculoskeletal system (body structure)\Skeletal system structure\...

\Structure of bony skeleton\Bony skeleton subdivision\Bone structure

\Bone and/or joint structure (body structure)\Bone structure

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

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

3318101000005115 Knoglestruktur 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
Bone structure	Is a	An anatomical structure that consists of the maximal set of organ parts so connected to one another that together they constitute a self-contained unit of macroscopic anatomy, distinct both morphologically and functionally from other such units. Together with other organs, an organ constitutes an organ system or a body part. An organ is divisible into organ parts but not organs (examples: femur, biceps, liver, heart, aorta, sciatic nerve, ovary).	false	Inferred relationship	Some
Bone structure	Is a	Bone and/or joint structure (body structure)	true	Inferred relationship	Some
Bone structure	del af	Entire body as a whole	false	Inferred relationship	Some
Bone structure	Is a	Skeletal system structure	false	Inferred relationship	Some
Bone structure	del af	Entire musculoskeletal system	false	Additional relationship	Some
Bone structure	Is a	Connective tissue structure	false	Inferred relationship	Some
Bone structure	Is a	Structure of bone organ	true	Inferred relationship	Some
Bone structure	Is a	Bony skeleton subdivision	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Brachyolmia - Maroteaux type (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Short rib dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Brachyolmia	Finding site	False	Bone structure	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, Spahr type (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Omodysplasi I	Finding site	False	Bone structure	Inferred relationship	Some	2
Sialic storage disease (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	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	Some	2
Precocious osteodysplasty (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteogenesis imperfecta, type IV A	Finding site	False	Bone structure	Inferred relationship	Some	2
Craniodiaphyseal dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Schneckenbecken dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Achondroplasia	Finding site	True	Bone structure	Inferred relationship	Some	3
Nievergelt's syndrome	Finding site	False	Bone structure	Inferred relationship	Some	2
Cherubism with gingival fibromatosis (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	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	Some	2
Metaphyseal chondrodysplasia, Sedaghatian type (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteogenesis imperfecta	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta (disorder)	Finding site	True	Bone structure	Inferred relationship	Some	3
Osteopetrose – ikke-klassificeret	Finding site	False	Bone structure	Inferred relationship	Some	2
Melorheostosis (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	3
Hereditary acroosteolysis (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Otospondylomegaepiphyseal dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteogenesis imperfecta type I (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Stuve-Wiedemann dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Sialic acid storage disease, severe infantile type	Finding site	False	Bone structure	Inferred relationship	Some	2
Spondylometaphyseal dysplasia - Sutcliffe type	Finding site	False	Bone structure	Inferred relationship	Some	2
Fronto-naso-ethmoidal dysostosis	Finding site	False	Bone structure	Inferred relationship	Some	3
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Hypochondroplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Immuno-osseous dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Chondrodysplasia punctata	Finding site	False	Bone structure	Inferred relationship	Some	2
Congenital absence of skeletal bone	Finding site	False	Bone structure	Inferred relationship	Some	2
Geroderma osteodysplastica	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteoglophonic dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Beals auriculo-osteodysplasia syndrome	Finding site	False	Bone structure	Inferred relationship	Some	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	Some	1
Brakyraki	Finding site	False	Bone structure	Inferred relationship	Some	2
The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression.	Finding site	False	Bone structure	Inferred relationship	Some	3
Autosomal recessiv spondyloepimetafyseal dysplasi	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteogenesis imperfecta with normal sclerae, dominant form	Finding site	False	Bone structure	Inferred relationship	Some	2
Spondylodysplastic group	Finding site	False	Bone structure	Inferred relationship	Some	2
A type of pseudohypoparathyroidism with characteristics of resistance to parathyroid hormone (PTH), which manifests with hypocalcaemia, hyperphosphataemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy and normal expression of the Gs protein with a normal urinary cAMP response. To date no specific genetic alteration responsible for this disorder has been detected. It has been hypothesised that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism.	Finding site	False	Bone structure	Inferred relationship	Some	2
Pseudokondroplasi	Finding site	False	Bone structure	Inferred relationship	Some	2
Pyknodysostosis	Finding site	False	Bone structure	Inferred relationship	Some	3
Chondrodysplasia punctata, MT type	Finding site	False	Bone structure	Inferred relationship	Some	2
Bent bone dysplasia group	Finding site	False	Bone structure	Inferred relationship	Some	2
Dermatofibrosis lenticularis disseminata	Finding site	False	Bone structure	Inferred relationship	Some	1
A rare genodermatosis disease with great phenotypic variation and most common characteristic of ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Caused by mutations in the EBP gene (Xp11.23-p11.22) encoding the emopamil binding protein (EBP), which acts as a delta8-delta7-sterol isomerase that catalyzes the conversion of 8(9)-cholestenol to lathosterol in the distal cholesterol biosynthesis pathway. A deficiency in EBP leads to the accumulation of 8-dehydrocholesterol (8DHC) and 8(9)-cholestenol in the skin, plasma and other body tissues.	Finding site	False	Bone structure	Inferred relationship	Some	2
Desbuquois syndrome (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Acrodysostosis	Finding site	False	Bone structure	Inferred relationship	Some	4
Brachydactyly syndrome type B (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	3
Idiopathic multicentric osteolysis	Finding site	False	Bone structure	Inferred relationship	Some	2
Sponastrime dysplasia (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Atelosteogenesis type 2	Finding site	False	Bone structure	Inferred relationship	Some	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	Some	2
Achondrogenesis, type II	Finding site	True	Bone structure	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia with joint laxity (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Namaqualand hip dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteodysplastic primordial dwarfism, type 1	Finding site	False	Bone structure	Inferred relationship	Some	2
Symfalangi-brakydaktyli-syndrom	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur.	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteodysplastisk primordial dværgvækst, type 2	Finding site	False	Bone structure	Inferred relationship	Some	2
Yunis-Varon dysplasia (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Congenital exostosis	Finding site	False	Bone structure	Inferred relationship	Some	2
Brachydactyly syndrome type C (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	3
Dysostosis multiplex	Finding site	False	Bone structure	Inferred relationship	Some	2
Mixed sclerosing bone dysplasia (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Type III short rib polydactyly syndrome	Finding site	False	Bone structure	Inferred relationship	Some	2
Short rib polydactyly syndrome	Finding site	False	Bone structure	Inferred relationship	Some	2
Diaphyseal medullary stenosis with bone malignancy (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	3
Defects of the tubular (and flat) bones and/or axial skeleton	Finding site	False	Bone structure	Inferred relationship	Some	2
Lenz-Majewski hyperostosis syndrome	Finding site	False	Bone structure	Inferred relationship	Some	2
Hypochondrogenesis	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteopathia striata	Finding site	False	Bone structure	Inferred relationship	Some	2
Polyostotic fibrous dysplasia of bone	Finding site	False	Bone structure	Inferred relationship	Some	2
Kniest dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Shwachman syndrome	Finding site	True	Bone structure	Inferred relationship	Some	3
Jarcho-Levin syndrome	Finding site	False	Bone structure	Inferred relationship	Some	2
Dysplasia epiphysealis hemimelica	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteokondrodysplasi	Finding site	False	Bone structure	Inferred relationship	Some	2
Benign autosomal dominant osteopetrose	Finding site	False	Bone structure	Inferred relationship	Some	2
Nail-patella syndrome is a rare hereditary patellar dysostosis with characteristics of nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteodysplastic primordial dwarfism	Finding site	False	Bone structure	Inferred relationship	Some	2
Boomerang dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Multipel epifyseal dysplasia tarda, type 3a	Finding site	False	Bone structure	Inferred relationship	Some	2
Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
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.	Finding site	True	Bone structure	Inferred relationship	Some	2
Osteopetrosis - intermediate type (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Pachydermoperiostosis - familial	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal	Finding site	False	Bone structure	Inferred relationship	Some	2
Dappled diaphyseal dysplasia (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Atelosteogenesis	Finding site	False	Bone structure	Inferred relationship	Some	2
Adult fucosidosis (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Fronto-frontal dysostosis	Finding site	False	Bone structure	Inferred relationship	Some	3
Osteogenesis imperfecta, type IV B (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Leri's pleonosteosis syndrome	Finding site	False	Bone structure	Inferred relationship	Some	2
Metaphyseal chondrodysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia tarda	Finding site	False	Bone structure	Inferred relationship	Some	2
Spondylodysplasia, Luton type (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Thanatophoric dysplasia, type 1 (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteogenesis imperfecta with blue sclerae AND normal teeth	Finding site	False	Bone structure	Inferred relationship	Some	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
3318101000005115	Knoglestruktur	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)