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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
Diaphanospondylodysostosis Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal recessive chondrodysplasia Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylocamptodactyly syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Micromelic spondyloepimetaphyseal dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Catel Manzke syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterised by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported. Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
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 True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
12q14 microdeletion syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondyloepimetaphyseal dysplasia aggrecan type (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Dyssegmental dysplasia with glaucoma 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) 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 True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal Larsen-like syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Nathalie syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Eiken syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Hyperplastic chondrodystrophy Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Bowed tibia, radial anomaly, osteopenia, fracture syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
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 True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Metaphyseal dysplasia Braun Tinschert type (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Exostosis, anetoderma, brachydactyly type E syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
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 True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Schimke immuno-osseous dysplasia Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Mesomelic dysplasia Savarirayan type (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Reinhardt Pfeiffer mesomelic dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Atelosteogenesis type 1 Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia tarda Kohn type (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylo-ocular syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Atelosteogenesis type 3 (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib-polydactyly syndrome, Majewski type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome cardiac valvular type Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
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 True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepiphyseal dysplasia Cantu type Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Epilepsy, microcephaly, skeletal dysplasia syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome musculocontractural type (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos and osteogenesis imperfecta syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Bone dysplasia Azouz type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
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 True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome kyphoscoliotic type Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Scypho-patellar dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Coxoauricular syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare primary bone dysplasia due to matrilin-3 variants and characterised by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. 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) 2
Bone dysplasia lethal Holmgren type (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
An exceedingly rare, autosomal recessive immune disease characterised by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Smith McCort dysplasia (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysspondyloenchondromatosis (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Czech dysplasia metatarsal type (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloenchondrodysplasia with immune dysregulation (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Dermatofibrosis lenticularis disseminata Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localised to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. Finding site True 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) 1
Van den Bosch syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Craniolenticulosutural dysplasia (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Closed reduction of fracture of bone and internal fixation using bone plate Procedure site - Direct (attribute) True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Closed reduction of fracture of bone and internal fixation using bone plate Procedure site - Direct (attribute) True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature Brussels type Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Chondrodysplasia with disorder of sex development syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Dacryocystitis and osteopoikilosis syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Doughnut lesion of calvaria and bone fragility syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Coloboma of macula with brachydactyly type B syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Campomelia Cumming type (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome progeroid type Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Ossification anomaly with psychomotor developmental delay syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Ichthyose-Hypotrichose-Syndrom Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Frank-Ter Haar syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalic osteodysplastic primordial dwarfism types I and III Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
DOORS syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
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 True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
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 True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
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 True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos and osteogenesis imperfecta syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Brittle cornea syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
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 True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Puerto Rican infant hypotonia syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Brachyolmia type 1 Toledo type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1

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Reference Sets

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

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