FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  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
407865012 Bone structure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
407865012 Bone structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
665231017 Bone structure (body structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
665231017 Bone structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
275241000077116 structure osseuse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
925831000172115 ossa fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
992971000172114 os fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
275241000077116 structure osseuse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
925831000172115 ossa fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
992971000172114 os fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4776 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Bone structure Is a Body organ structure false Inferred relationship Existential restriction modifier (core metadata concept)
Bone structure Is a Bone and/or joint structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept)
Bone structure partie de Entire body as a whole (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Bone structure Is a Skeletal system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Bone structure partie de Entire musculoskeletal system false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Bone structure Is a Connective tissue structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Bone structure Is a Structure of bone organ true Inferred relationship Existential restriction modifier (core metadata concept)
Bone structure Is a Bony skeleton subdivision true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Frank-Ter Haar syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 7
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 9
syndrome d'Ehlers-Danlos type vasculaire-like Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome cardiac valvular type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Hall Riggs syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Oliver syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Dacryocystitis and osteopoikilosis syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Diaphanospondylodysostosis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome musculocontractural type (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Ehlers-Danlos syndrome progeroid type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Aplasia of fibula and ectrodactyly syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic disease characterized by global developmental delay with language and cognition deficiencies, behavioral problems, osteopenia, joint laxity, skin defects consisting of hyperkeratosis and sweat gland and melanocyte abnormalities with hypopigmented areas, and abnormal hair structure. Mild facial dysmorphism (prominent forehead, thick eyebrows, epicanthal folds, broad nasal bridge, long philtrum, and micrognathia), abnormalities of the teeth, and skeletal and cardiac anomalies have also been described. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Robinow-like syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Coloboma of macula with brachydactyly type B syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Bone widening at ends (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Puerto Rican infant hypotonia syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
DOORS syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 8
Pasteurella multocida osteomyelitis Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Eiken syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 7
Catel Manzke syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Skeletal dysplasia with intellectual disability syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Metastatic adenocarcinoma to bone Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteopenia with high fracture risk (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Klippel Trenaunay syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Fuhrmann syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Ossification anomaly with psychomotor developmental delay syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 8
Osteocraniostenosis (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Ichthyose-Hypotrichose-Syndrom Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 6
A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis. Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare primary bone dysplasia characterized by extensive epiphyseal, tarsal, spinal, and sometimes metacarpal and/or phalangeal stippling, severe generalized osteopenia, vertebral clefting, platyspondyly, bowing and shortening of the long bones, and variable periosteal cloaking. Laboratory analysis of lysosomal enzymes reveals normal activity. Histopathology shows numerous giant, multinucleated osteoclasts lining Howship lacunae, consistent with increased bone resorption. The condition manifests prenatally and is presumably lethal in the perinatal period. Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Dyschondrosteose - Nephritis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Dysspondyloenchondromatosis (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Fuhrmann syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Parastremmatic dwarfism (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Metabolic bone disease of prematurity (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.). Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Schimke immuno-osseous dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Parkes Weber syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Angio-osteohypertrophic syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Parkes Weber syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Angio-osteohypertrophic syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Solitary exostosis Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modelling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Bowed tibia, radial anomaly, osteopenia, fracture syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
cheiro-spondylo-enchondromatose Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniolenticulosutural dysplasia (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Atelosteogenesis type 1 Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Atelosteogenesis type 3 (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant omodysplasia (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive omodysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
CHST3-related skeletal dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalic osteodysplastic primordial dwarfism types I and III Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Osteonecrosis due to and following renal dialysis Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Idiopathic aseptic osteonecrosis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Genochondromatosis type 2 (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Short rib polydactyly syndrome Saldino Noonan type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Spastic paraplegia with Paget disease of bone syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 10
Bone dysplasia lethal Holmgren type (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Coxoauricular syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Melhem Fahl syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Epilepsy, microcephaly, skeletal dysplasia syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 7
Ehlers-Danlos and osteogenesis imperfecta syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Exostosis, anetoderma, brachydactyly type E syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Long thumb brachydactyly syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Van den Bosch syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2

Start Previous Page 112 of 120 Next End

Reference Sets

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

Back to Start