272673000: Bone structure (body structure)

SNOMED CT Concept\Body structure (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

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	Part of	Entire body as a whole	false	Inferred relationship	Some
Bone structure	Is a	Skeletal system structure	false	Inferred relationship	Some
Bone structure	Part of	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
Juvenile osteochondrosis of hand	Finding site	False	Bone structure	Inferred relationship	Some	3
Osteophyte of left knee (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	1
Heberden node of the distal interphalangeal joints of the left hand	Finding site	True	Bone structure	Inferred relationship	Some	1
Osteophyte of bilateral knees (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	1
Heberden node	Finding site	True	Bone structure	Inferred relationship	Some	1
Heberden node of the distal interphalangeal joints of the right hand	Finding site	True	Bone structure	Inferred relationship	Some	1
Sporotrichosis of the bones	Finding site	True	Bone structure	Inferred relationship	Some	1
A rare, genetic, primary bone dysplasia with decreased bone density disorder characterized by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype.	Finding site	True	Bone structure	Inferred relationship	Some	1
Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, developmental delays, and craniofacial anomalies.	Finding site	True	Bone structure	Inferred relationship	Some	2
A rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.	Finding site	True	Bone structure	Inferred relationship	Some	1
A rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.	Finding site	False	Bone structure	Inferred relationship	Some	1
A rare primary bone dysplasia disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genu varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses, and irregular distal femoral and proximal tibial metaphyses.	Finding site	True	Bone structure	Inferred relationship	Some	1
High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with multiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal.	Finding site	True	Bone structure	Inferred relationship	Some	1
Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.	Finding site	True	Bone structure	Inferred relationship	Some	1
A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by benign, isolated, calvarial thickening, presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences, and facial dysmorphism comprising a flat nasal root and short, upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986.	Finding site	True	Bone structure	Inferred relationship	Some	1
Spondylometaphyseal dysplasia Czarny Ratajczak type	Finding site	False	Bone structure	Inferred relationship	Some	1
Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait), short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency. No facial dysmorphism nor joint limitation is associated. There have been no further descriptions in the literature since 1984.	Finding site	True	Bone structure	Inferred relationship	Some	1
Infection of bone associated with bone fixation device	Finding site	True	Bone structure	Inferred relationship	Some	1
Infected plate or screw	Finding site	False	Bone structure	Inferred relationship	Some	1
Infection of bone associated with internal Kirschner wire fixator	Finding site	True	Bone structure	Inferred relationship	Some	1
Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis, and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs.	Finding site	True	Bone structure	Inferred relationship	Some	1
Infection of bone associated with bone wire	Finding site	True	Bone structure	Inferred relationship	Some	1
Dysplastic cortical hyperostosis	Finding site	False	Bone structure	Inferred relationship	Some	1
Infection of bone associated with external fixator pin	Finding site	True	Bone structure	Inferred relationship	Some	1
Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.	Finding site	True	Bone structure	Inferred relationship	Some	1
Infection of bone associated with intramedullary rod	Finding site	True	Bone structure	Inferred relationship	Some	1
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.	Finding site	True	Bone structure	Inferred relationship	Some	1
Osteomesopycnosis	Finding site	False	Bone structure	Inferred relationship	Some	3
Osteosclerosis	Finding site	True	Bone structure	Inferred relationship	Some	1
A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.	Finding site	True	Bone structure	Inferred relationship	Some	1
A rare osteonecrosis disease characterized by death of bone cellular components secondary to an interruption of the subchondral blood supply, typically manifesting with unilateral or bilateral, unifocal or multifocal lesions usually located on the epiphysis, metaphysis and/or diaphysis of the femoral heads, knees, shoulders, ankles and/or wrists, leading to gradual onset of pain and progressive joint degeneration resulting in loss of function. Association with corticosteroid usage, alcoholism, hyperbaric events, radiation or cytotoxic agent exposure, hemoglobinopathies, and/or underlying autoimmune or metabolic disease, amongst others, has been observed.	Finding site	True	Bone structure	Inferred relationship	Some	1
A rare primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.	Finding site	True	Bone structure	Inferred relationship	Some	1
Bowing deformity of bone	Finding site	True	Bone structure	Inferred relationship	Some	1
A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo-/laryngomalacia, and astigmatic myopia are also associated.	Finding site	True	Bone structure	Inferred relationship	Some	3
Infection of bone associated with spinal fixation device	Finding site	False	Bone structure	Inferred relationship	Some	2
Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur.	Finding site	True	Bone structure	Inferred relationship	Some	1
A rare, genetic, congenital limb malformation syndrome characterised by a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. Additional variable manifestations include bifid toes and severe syndactyly, or synpolydactyly, involving all digits of hands and feet.	Finding site	True	Bone structure	Inferred relationship	Some	1
Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.	Finding site	True	Bone structure	Inferred relationship	Some	1
A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated.	Finding site	True	Bone structure	Inferred relationship	Some	1
Dysplasia with increased bone density	Finding site	True	Bone structure	Inferred relationship	Some	3
A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern KwaZulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly have been reported in a few patients with MJD.	Finding site	True	Bone structure	Inferred relationship	Some	2
Menkes kinky-hair syndrome	Finding site	True	Bone structure	Inferred relationship	Some	4
Mixed sclerosing bone dysplasia (disorder)	Finding site	True	Bone structure	Inferred relationship	Some	3
A rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.	Finding site	True	Bone structure	Inferred relationship	Some	1
A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.	Finding site	True	Bone structure	Inferred relationship	Some	1
A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981.	Finding site	True	Bone structure	Inferred relationship	Some	1
Gonococcal osteomyelitis (disorder)	Finding site	True	Bone structure	Inferred relationship	Some	2
Schwartz-Jampel syndrome	Finding site	True	Bone structure	Inferred relationship	Some	1
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Finding site	True	Bone structure	Inferred relationship	Some	3
Autosomal dominant hypophosphatemic rickets	Finding site	False	Bone structure	Inferred relationship	Some	3
Autosomal dominant hypophosphataemic bone disease	Finding site	False	Bone structure	Inferred relationship	Some	3
Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.	Finding site	True	Bone structure	Inferred relationship	Some	1
Francois syndrome	Finding site	True	Bone structure	Inferred relationship	Some	3
Aluminum bone disease	Finding site	True	Bone structure	Inferred relationship	Some	1
Aluminium-related osteomalacia	Finding site	False	Bone structure	Inferred relationship	Some	2
Fracture of bone due to accidental fall	Finding site	True	Bone structure	Inferred relationship	Some	1
Reduced ossification	Finding site	True	Bone structure	Inferred relationship	Some	2
Division and displacement of bone (procedure)	Procedure site - Direct (attribute)	True	Bone structure	Inferred relationship	Some	2
Neonatal osteosclerotic dysplasia (disorder)	Finding site	True	Bone structure	Inferred relationship	Some	1
Blomstrand dysplasia (disorder)	Finding site	True	Bone structure	Inferred relationship	Some	1
A rare disorder defined by generalised osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner.	Finding site	True	Bone structure	Inferred relationship	Some	1
Q fever osteomyelitis (disorder)	Finding site	True	Bone structure	Inferred relationship	Some	2
Osteomyelitis	Finding site	True	Bone structure	Inferred relationship	Some	2
SAPHO syndrome	Finding site	True	Bone structure	Inferred relationship	Some	4
Bacterial osteomyelitis	Finding site	True	Bone structure	Inferred relationship	Some	2
Seckel syndrome	Finding site	True	Bone structure	Inferred relationship	Some	1
Klippel-Feil sequence	Finding site	True	Bone structure	Inferred relationship	Some	1
Salmonella osteomyelitis	Finding site	True	Bone structure	Inferred relationship	Some	2
Desmosterolosis (disorder)	Finding site	True	Bone structure	Inferred relationship	Some	1
A rare partial autosomal monosomy characterised by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioural abnormalities, myopia, strabismus, and sensorineural hearing loss, among others.	Finding site	True	Bone structure	Inferred relationship	Some	3
Hemangioma of bone	Finding site	True	Bone structure	Inferred relationship	Some	1
Chronic symmetric plasma cell osteomyelitis	Finding site	False	Bone structure	Inferred relationship	Some	2
A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia.	Finding site	True	Bone structure	Inferred relationship	Some	3
A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis.	Finding site	False	Bone structure	Inferred relationship	Some	4
Wildervanck syndrome	Finding site	True	Bone structure	Inferred relationship	Some	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	Finding site	True	Bone structure	Inferred relationship	Some	3
Osteitis fibrosa cystica	Finding site	False	Bone structure	Inferred relationship	Some	4
Osteomyelitis of multiple sites	Finding site	False	Bone structure	Inferred relationship	Some	2
Fracture of multiple bones (disorder)	Finding site	True	Bone structure	Inferred relationship	Some	1
Erosion of bone (finding)	Finding site	True	Bone structure	Inferred relationship	Some	1
Fracture of bone after implantation of orthopedic device	Finding site	True	Bone structure	Inferred relationship	Some	1
An extremely rare type of severe combined immunodeficiency (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.	Finding site	True	Bone structure	Inferred relationship	Some	1
Osteomyelitis due to type 1 diabetes mellitus (disorder)	Finding site	True	Bone structure	Inferred relationship	Some	2
Osteomyelitis due to type 2 diabetes mellitus (disorder)	Finding site	True	Bone structure	Inferred relationship	Some	2
CT guided injection of bone	Procedure site - Indirect (attribute)	True	Bone structure	Inferred relationship	Some	1
CT guided injection of bone	Procedure site - Direct (attribute)	True	Bone structure	Inferred relationship	Some	2
CT guided aspiration of bone	Procedure site - Indirect (attribute)	False	Bone structure	Inferred relationship	Some	1
CT guided aspiration of bone	Procedure site - Direct (attribute)	True	Bone structure	Inferred relationship	Some	2
Entire bony bone	Is a	True	Bone structure	Inferred relationship	Some
Malignant neoplasm of bone, connective tissue, skin and breast	Finding site	True	Bone structure	Inferred relationship	Some	2
Carcinoma of bone, connective tissue, skin and breast	Finding site	True	Bone structure	Inferred relationship	Some	2
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).	Finding site	True	Bone structure	Inferred relationship	Some	3
Autosomal dominant hypophosphatemic rickets	Finding site	True	Bone structure	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic bone disease	Finding site	True	Bone structure	Inferred relationship	Some	2
A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis.	Finding site	True	Bone structure	Inferred relationship	Some	2
Radiotherapy to bone	Procedure site - Direct (attribute)	True	Bone structure	Inferred relationship	Some	1
Chondrodysplasia punctata due to maternal autoimmune disease (disorder)	Finding site	True	Bone structure	Inferred relationship	Some	1
Chronic kidney disease with osteoporosis	Finding site	False	Bone structure	Inferred relationship	Some	1
Renal osteodystrophy with high bone turnover	Finding site	True	Bone structure	Inferred relationship	Some	1
Renal osteodystrophy with normal bone turnover (disorder)	Finding site	True	Bone structure	Inferred relationship	Some	1
Renal osteodystrophy with low bone turnover (disorder)	Finding site	True	Bone structure	Inferred relationship	Some	1

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Anatomy structure and part 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