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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
Secondary syphilitic periostitis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Infection of bone of ankle and/or foot Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Acute infection of bone (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Infection of bone of shoulder girdle Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Infection of bone allograft Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Infection of bone of tibia and/or fibula Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Infection of bone of hand (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Infection of bone Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Infection of bone of radius and/or ulna (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Infection of bone associated with another disease Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Osseous cryptococcosis (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Infection of bone of pelvic region and/or femur Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Infection of bone graft Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Benign chondroblastoma of bone (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Excised bone specimen (specimen) Specimen source topography True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Infection of multiple bones (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
néoplasme malin primitif de la prostate métastasée dans un os Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Removal of AO external fixator (procedure) Procedure site - Indirect (attribute) True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Weismann Netter syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Rhizomelic dysplasia of Patterson Lowry type (disorder) Finding site False 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 False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
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 False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Gnathodiaphyseal dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Mesomelic dysplasia Savarirayan type (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondylo-ocular syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Familial osteochondritis dissecans Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple non-ossifying fibromatosis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Reinhardt Pfeiffer mesomelic dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
syndrome ischio-vertébral Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachyolmia type 1 Toledo type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Multiple epiphyseal dysplasia type 4 (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Multiple epiphyseal dysplasia type 1 Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Multiple epiphyseal dysplasia type 5 (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
syndrome ischio-vertébral Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactylous dwarfism Mseleni type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Micromelic spondyloepimetaphyseal dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 6
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 8
Smith McCort dysplasia (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Dyssegmental dysplasia with glaucoma syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Spondylocamptodactyly syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Multicentric osteolysis nodulosis arthropathy spectrum Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Nathalie syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Metaphyseal dysplasia Braun Tinschert type (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
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 False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
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 False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome kyphoscoliotic type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome kyphoscoliotic type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type. Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondyloepiphyseal dysplasia Reardon type (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
12q14 microdeletion syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Spondyloepiphyseal dysplasia Cantu type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Spondyloepimetaphyseal dysplasia Missouri type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepimetaphyseal dysplasia Shohat type (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepiphyseal dysplasia tarda Kohn type (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepiphyseal dysplasia Kimberley type (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterised clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. 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 False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Short stature Brussels type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Brittle cornea syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Spondyloepimetaphyseal dysplasia aggrecan type (disorder) Finding site False 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 False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Chronic haematogenous osteomyelitis Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Progressive non-infectious anterior vertebral fusion (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondylometaphyseal dysplasia Schmidt type (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal recessive chondrodysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal Larsen-like syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Mesomelic dysplasia Kantaputra type (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleidorhizomelic syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 8
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) 4
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
ostéomyélite chronique à cellules plasmatiques symétriques Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
ostéomyélite chronique à cellules plasmatiques symétriques Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
ostéomyélite chronique à cellules plasmatiques symétriques Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 6
A rare skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax. Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Acropectorovertebral dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 7
Doughnut lesion of calvaria and bone fragility syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Campomelia Cumming type (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Cardiospondylocarpofacial syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Bone dysplasia Azouz type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptodactyly syndrome Guadalajara type 2 Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 7
Czech dysplasia metatarsal type (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Chondrodysplasia with disorder of sex development syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Ehlers-Danlos syndrome musculocontractural type (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Filippi syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 7
Frank-Ter Haar syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3

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Reference Sets

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

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