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
Brachyolmia type 1 Toledo type	Finding site	False	Bone structure	Inferred relationship	Some	1
An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.	Finding site	True	Bone structure	Inferred relationship	Some	1
Larsen syndrome	Finding site	True	Bone structure	Inferred relationship	Some	2
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome	Finding site	False	Bone structure	Inferred relationship	Some	1
A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).	Finding site	True	Bone structure	Inferred relationship	Some	1
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.	Finding site	True	Bone structure	Inferred relationship	Some	2
Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.	Finding site	True	Bone structure	Inferred relationship	Some	1
A rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981.	Finding site	True	Bone structure	Inferred relationship	Some	3
Acrodysostosis	Finding site	True	Bone structure	Inferred relationship	Some	1
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.	Finding site	True	Bone structure	Inferred relationship	Some	1
Ehlers-Danlos syndrome vascular-like type	Finding site	False	Bone structure	Inferred relationship	Some	1
A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age.	Finding site	False	Bone structure	Inferred relationship	Some	3
A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterised by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.	Finding site	True	Bone structure	Inferred relationship	Some	1
Mandibuloacral dysostosis	Finding site	False	Bone structure	Inferred relationship	Some	4
Osseous cryptococcosis	Finding site	True	Bone structure	Inferred relationship	Some	1
Bone structure of multiple body regions	Is a	True	Bone structure	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.	Finding site	True	Bone structure	Inferred relationship	Some	1
A form of spondylodysplastic Ehlers-Danlos syndrome (EDS) due to variants in the SLC39A13 gene and characterized by the presence of thin and finely wrinkled skin of the hands and feet, hypermobile distal joints, characteristic facial features (downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia or oligodontia), muscular hypotonia, associated with significant short stature of childhood-onset, ocular findings (myopia and keratoconus) and, more rarely, vascular complications. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature.	Finding site	True	Bone structure	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia Bieganski type	Finding site	False	Bone structure	Inferred relationship	Some	1
Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests and marked sclerosis of the skull base.	Finding site	True	Bone structure	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.	Finding site	True	Bone structure	Inferred relationship	Some	2
Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair.	Finding site	True	Bone structure	Inferred relationship	Some	2
A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.	Finding site	True	Bone structure	Inferred relationship	Some	1
Delayed epiphyseal closure	Finding site	False	Bone structure	Inferred relationship	Some	3
Premature epiphyseal closure	Finding site	False	Bone structure	Inferred relationship	Some	3
Bone turnover rate disorder	Finding site	True	Bone structure	Inferred relationship	Some	1
Bone turnover rate decreased	Finding site	True	Bone structure	Inferred relationship	Some	2
Increased bone formation	Finding site	True	Bone structure	Inferred relationship	Some	2
Bone resorption disorder	Finding site	False	Bone structure	Inferred relationship	Some	1
Decreased maintenance of bone matrix	Finding site	True	Bone structure	Inferred relationship	Some	2
Bone turnover rate increased	Finding site	True	Bone structure	Inferred relationship	Some	2
Epiphysis closure disorder	Finding site	False	Bone structure	Inferred relationship	Some	1
Bone turnover rate absent	Finding site	True	Bone structure	Inferred relationship	Some	2
Late closure of anterior fontanel	Finding site	False	Bone structure	Inferred relationship	Some	3
Decreased osteoblast function	Finding site	True	Bone structure	Inferred relationship	Some	2
Incomplete ossification of interparietal bone	Finding site	True	Bone structure	Inferred relationship	Some	3
Lack of bone formation	Finding site	True	Bone structure	Inferred relationship	Some	2
Osteoid formation disorder	Finding site	False	Bone structure	Inferred relationship	Some	1
Epiphysis formation disorder	Finding site	False	Bone structure	Inferred relationship	Some	1
Early fontanel closure	Finding site	False	Bone structure	Inferred relationship	Some	3
Functional bone disorder	Finding site	False	Bone structure	Inferred relationship	Some	1
Reduced ossification	Finding site	False	Bone structure	Inferred relationship	Some	2
Late fontanel closure	Finding site	False	Bone structure	Inferred relationship	Some	3
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphyseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.	Finding site	False	Bone structure	Inferred relationship	Some	2
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	False	Bone structure	Inferred relationship	Some	3
A rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.	Finding site	True	Bone structure	Inferred relationship	Some	2
A rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.	Finding site	True	Bone structure	Inferred relationship	Some	3
A rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.	Finding site	True	Bone structure	Inferred relationship	Some	1
A rare, genetic primary bone dysplasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent pycnodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed.	Finding site	True	Bone structure	Inferred relationship	Some	1
Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.	Finding site	True	Bone structure	Inferred relationship	Some	2
Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.	Finding site	True	Bone structure	Inferred relationship	Some	2
Peripheral dysostosis	Finding site	False	Bone structure	Inferred relationship	Some	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with preauricular pits/tags.	Finding site	True	Bone structure	Inferred relationship	Some	1
MRI guided high intensity focused ultrasound ablation of lesion of bone	Procedure site - Direct (attribute)	True	Bone structure	Inferred relationship	Some	2
MRI guided high intensity focused ultrasound ablation of lesion of bone	Procedure site - Direct (attribute)	True	Bone structure	Inferred relationship	Some	1
A rare, genetic, syndromic dysostosis characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.	Finding site	True	Bone structure	Inferred relationship	Some	4
Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones.	Finding site	True	Bone structure	Inferred relationship	Some	1
FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophthalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoiesis may also be associated.	Finding site	True	Bone structure	Inferred relationship	Some	1
A form of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, fragile and thin hand skin breaks or bruises easily), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.	Finding site	True	Bone structure	Inferred relationship	Some	1
A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.	Finding site	True	Bone structure	Inferred relationship	Some	1
A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.	Finding site	True	Bone structure	Inferred relationship	Some	2
Craterisation of bone	Procedure site - Direct (attribute)	True	Bone structure	Inferred relationship	Some	1
An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972.	Finding site	True	Bone structure	Inferred relationship	Some	4
Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.	Finding site	True	Bone structure	Inferred relationship	Some	2
Osteoporosis caused by corticosteroid (disorder)	Finding site	True	Bone structure	Inferred relationship	Some	1
Osteoporosis caused by corticosteroid (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Drug-induced osteoporosis	Finding site	True	Bone structure	Inferred relationship	Some	1
Total prosthetic replacement of bone	Procedure site - Indirect (attribute)	False	Bone structure	Inferred relationship	Some	2
Total prosthetic replacement of bone of hand	Procedure site - Indirect (attribute)	False	Bone structure	Inferred relationship	Some	3
Total prosthetic replacement of scaphoid	Procedure site - Indirect (attribute)	False	Bone structure	Inferred relationship	Some	3
Total prosthetic replacement of trapezium	Procedure site - Indirect (attribute)	False	Bone structure	Inferred relationship	Some	4
Total prosthetic replacement of lunate	Procedure site - Indirect (attribute)	False	Bone structure	Inferred relationship	Some	4
Neonatal osteopenia (disorder)	Finding site	True	Bone structure	Inferred relationship	Some	1
Total ostectomy for graft of mandible	Procedure site - Direct (attribute)	False	Bone structure	Inferred relationship	Some	2
Juvenile osteochondrosis of carpal lunate	Finding site	False	Bone structure	Inferred relationship	Some	3
Fragmented coronoid process (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	3
Juvenile osteochondrosis of right second metatarsal	Finding site	False	Bone structure	Inferred relationship	Some	2
Medial coronoid process disease	Finding site	False	Bone structure	Inferred relationship	Some	2
Complete epiphyseal arrest	Finding site	False	Bone structure	Inferred relationship	Some	2
Juvenile osteochondrosis of the foot (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	3
Juvenile osteochondrosis of left second metatarsal	Finding site	False	Bone structure	Inferred relationship	Some	2
Juvenile osteochondrosis of lower extremity (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Juvenile osteochondrosis of talus	Finding site	False	Bone structure	Inferred relationship	Some	3
Juvenile osteochondrosis of second metatarsal	Finding site	False	Bone structure	Inferred relationship	Some	3
Juvenile osteochondrosis of lower ulna	Finding site	False	Bone structure	Inferred relationship	Some	2
Juvenile osteochondrosis of left tarsus	Finding site	False	Bone structure	Inferred relationship	Some	2
Juvenile osteochondrosis of left tarsal navicular	Finding site	False	Bone structure	Inferred relationship	Some	2
Juvenile osteochondrosis of bilateral tarsals (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	3
Juvenile osteochondrosis of tibial tubercle (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Juvenile osteochondrosis of head of metacarpals	Finding site	False	Bone structure	Inferred relationship	Some	5
Juvenile osteochondrosis of lower extremity, excluding foot	Finding site	False	Bone structure	Inferred relationship	Some	2
Juvenile osteochondrosis of the secondary patellar center	Finding site	False	Bone structure	Inferred relationship	Some	2
Juvenile osteochondrosis of right tarsal navicular (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Juvenile osteochondrosis of right tarsus (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Juvenile osteochondrosis of upper extremity	Finding site	False	Bone structure	Inferred relationship	Some	2
Juvenile osteochondrosis of os tibiale	Finding site	False	Bone structure	Inferred relationship	Some	2
Juvenile osteochondrosis of tibial tuberosity of bilateral knees (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	3
Juvenile osteochondrosis of tarsal navicular	Finding site	False	Bone structure	Inferred relationship	Some	3
Juvenile osteochondrosis of fifth metatarsal	Finding site	False	Bone structure	Inferred relationship	Some	3
Juvenile osteochondrosis of primary patellar center	Finding site	False	Bone structure	Inferred relationship	Some	2
Juvenile osteochondrosis of hand	Finding site	False	Bone structure	Inferred relationship	Some	3

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

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