FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.4  |  FHIR Version n/a  User: [n/a]

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:

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)


4776 descendants. Search Descendants:

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 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
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 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
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 subtype of Ehlers-Danlos syndrome with characteristics of skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers. There is evidence the disease is caused by homozygous mutation of gene SLC39A13 on chromosome 11p11.2. Finding site True Bone structure Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia Bieganski type Finding site False Bone structure Inferred relationship Some 1
A rare primary bone dysplasia disorder with characteristics of 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
A rare primary bone dysplasia with characteristics of 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. Caused by homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22. Finding site True Bone structure Inferred relationship Some 2
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. There is evidence the disease is caused by homozygous mutation in the BANF1 gene on chromosome 11q13. Finding site True Bone structure Inferred relationship Some 2
A rare genetic immuno-osseous dysplasia disorder with characteristics of pre and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly). Also associated are humeral immunodeficiency with inability to generate specific antibodies and low circulating B-cells, craniofacial dysmorphism that typically includes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip. There is evidence the disease is caused by compound heterozygous mutation in the RNU4ATAC gene on chromosome 2q14. 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
Knogleresorptionsforstyrrelse 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
forstyrrelse vedr. epifyselukning 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) 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
forstyrrelse af osteoid dannelse Finding site False Bone structure Inferred relationship Some 1
forstyrrelse af epifysedannelse Finding site False Bone structure Inferred relationship Some 1
Early fontanel closure Finding site False Bone structure Inferred relationship Some 3
forstyrrelse af knoglevævsfunktion 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
A rare primary bone dysplasia disorder with characteristics of 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
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. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. Finding site False Bone structure Inferred relationship Some 3
A rare genetic dysostosis disorder with characteristics of 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 with characteristics of 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. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2. Finding site True Bone structure Inferred relationship Some 3
A rare genetic primary bone dysplasia disorder with characteristics of 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. There is evidence the disease can be caused by homozygous mutation in the POC1A gene on chromosome 3p21. Finding site True Bone structure Inferred relationship Some 1
A rare genetic primary bone dysplasia with characteristics of 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, 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. There is evidence the disease is caused by homozygous inactivating mutations in the NKX3-2 gene on chromosome 4p15. Finding site True Bone structure Inferred relationship Some 1
A rare severe genetic autoinflammatory syndrome characterised by usually neonatal onset of generalised 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. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14. Finding site True Bone structure Inferred relationship Some 2
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 (for example anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. 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 with characteristics of 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. Caused by homozygous mutation in the GSC gene on chromosome 14q32. 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 dysostosis syndrome with characteristics of 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. There is evidence the disease is caused by homozygous mutation in the CHSY1 gene on chromosome 15q26. Finding site True Bone structure Inferred relationship Some 4
A form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, with characteristics of 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. Stippled epiphyses are usually seen in the tarsus, knee, and distal phalanges, but may be more generalised, including epiphyses of the long bones, vertebrae, hips, hyoid and tracheal cartilage. At birth, the diagnosis is apparent with facial dysmorphism, quite similar to that of maxillonasal dysplasia. The causative gene is ARSE (Xp22) encoding the arylsulfatase E protein essential for the correct composition of cartilage and bone matrix during development. The pattern of inheritance is X-linked. Finding site True Bone structure Inferred relationship Some 1
A rare genetic lethal primary bone dysplasia with characteristics of 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 hematopoesis may also be associated. Finding site True Bone structure Inferred relationship Some 1
A type 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, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21. Finding site True Bone structure Inferred relationship Some 1
A rare hereditary developmental defect with connective tissue involvement and characteristics of 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. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. Finding site True Bone structure Inferred relationship Some 1
A rare genetic progeroid syndrome disorder with characteristics of 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. There is evidence the disease is caused by heterozygous mutation in the PDGFRB gene on chromosome 5q32. 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
Sygdom i processus coronoideus medialis 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 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

Start Previous Page 115 of 120 Next End


Reference Sets

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

Back to Start