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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

4861 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 Part of Entire body as a whole false Inferred relationship Some
Bone structure Is a Skeletal system structure false Inferred relationship Some
Bone structure Part of Entire musculoskeletal system false Additional relationship Some
Bone structure Is a Connective tissue structure false Inferred relationship Some
Bone structure Is a Structure of bone organ true Inferred relationship Some
Bone structure Is a Bony skeleton subdivision true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Brachyolmia - Maroteaux type (disorder) Finding site False Bone structure Inferred relationship Some 2
Short rib dysplasia Finding site False Bone structure Inferred relationship Some 2
Brachyolmia Finding site False Bone structure Inferred relationship Some 2
Metaphyseal chondrodysplasia, Spahr type Finding site False Bone structure Inferred relationship Some 2
Omodysplasia I Finding site False Bone structure Inferred relationship Some 2
Sialic storage disease Finding site False Bone structure Inferred relationship Some 2
A rare, rhizo-mesomelic dysplasia characterised by distinct facial features (flat midface, flat small nose, anteverted nares, low set ears, protuberant eyes, and small mouth with long upper lip), markedly short limbs with relatively normal hands and feet, short ribs with broad metaphyses and small bell-shaped thorax with protuberant abdomen. Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. Affected individuals who survive the neonatal period present with severe global developmental delay, severe skeletal dysplasia, high myopia and mild to moderate hearing loss. Finding site False Bone structure Inferred relationship Some 2
Precocious osteodysplasty (disorder) Finding site False Bone structure Inferred relationship Some 2
Osteogenesis imperfecta, type IV A Finding site False Bone structure Inferred relationship Some 2
Craniodiaphyseal dysplasia Finding site False Bone structure Inferred relationship Some 2
Schneckenbecken dysplasia Finding site False Bone structure Inferred relationship Some 2
Achondroplasia Finding site True Bone structure Inferred relationship Some 3
Nievergelt's syndrome Finding site False Bone structure Inferred relationship Some 2
Cherubism with gingival fibromatosis (disorder) Finding site False Bone structure Inferred relationship Some 3
A rare congenital disorder of bone resorption characterised by generalised skeletal densification. Finding site False Bone structure Inferred relationship Some 2
Metaphyseal chondrodysplasia, Sedaghatian type (disorder) Finding site False Bone structure Inferred relationship Some 2
Osteogenesis imperfecta Finding site False Bone structure Inferred relationship Some 2
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Finding site True Bone structure Inferred relationship Some 3
Osteopetrosis - unclassified Finding site False Bone structure Inferred relationship Some 2
Melorheostosis Finding site False Bone structure Inferred relationship Some 3
Hereditary acroosteolysis (disorder) Finding site False Bone structure Inferred relationship Some 2
Otospondylomegaepiphyseal dysplasia Finding site False Bone structure Inferred relationship Some 2
Osteogenesis imperfecta type I (disorder) Finding site False Bone structure Inferred relationship Some 2
Stuve-Wiedemann dysplasia (disorder) Finding site False Bone structure Inferred relationship Some 2
Sialic acid storage disease, severe infantile type Finding site False Bone structure Inferred relationship Some 2
Spondylometaphyseal dysplasia - Sutcliffe type Finding site False Bone structure Inferred relationship Some 2
Fronto-naso-ethmoidal dysostosis Finding site False Bone structure Inferred relationship Some 3
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) Finding site False Bone structure Inferred relationship Some 2
Hypochondroplasia Finding site False Bone structure Inferred relationship Some 2
Immuno-osseous dysplasia Finding site False Bone structure Inferred relationship Some 2
Chondrodysplasia punctata (stippled epiphyses) group (disorder) Finding site False Bone structure Inferred relationship Some 2
Congenital absence of skeletal bone Finding site False Bone structure Inferred relationship Some 2
Geroderma osteodysplastica Finding site False Bone structure Inferred relationship Some 2
Osteoglophonic dysplasia Finding site False Bone structure Inferred relationship Some 2
Beals auriculo-osteodysplasia syndrome Finding site False Bone structure Inferred relationship Some 2
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment. Finding site True Bone structure Inferred relationship Some 1
Brachyrachia (short spine dysplasia) Finding site False Bone structure Inferred relationship Some 2
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Finding site False Bone structure Inferred relationship Some 3
Autosomal recessive spondyloepimetaphyseal dysplasia Finding site False Bone structure Inferred relationship Some 2
Osteogenesis imperfecta with normal sclerae, dominant form Finding site False Bone structure Inferred relationship Some 2
Spondylodysplastic group Finding site False Bone structure Inferred relationship Some 2
A type of pseudohypoparathyroidism with characteristics of resistance to parathyroid hormone (PTH), which manifests with hypocalcaemia, hyperphosphataemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy and normal expression of the Gs protein with a normal urinary cAMP response. To date no specific genetic alteration responsible for this disorder has been detected. It has been hypothesised that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism. Finding site False Bone structure Inferred relationship Some 2
Pseudochondroplasia Finding site False Bone structure Inferred relationship Some 2
Pyknodysostosis Finding site False Bone structure Inferred relationship Some 3
Chondrodysplasia punctata, MT type Finding site False Bone structure Inferred relationship Some 2
Bent bone dysplasia group Finding site False Bone structure Inferred relationship Some 2
Dermatofibrosis lenticularis disseminata Finding site False Bone structure Inferred relationship Some 1
A rare genodermatosis disease with great phenotypic variation and characterised most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Finding site False Bone structure Inferred relationship Some 2
Desbuquois syndrome Finding site False Bone structure Inferred relationship Some 2
Acrodysostosis Finding site False Bone structure Inferred relationship Some 4
Brachydactyly syndrome type B (disorder) Finding site False Bone structure Inferred relationship Some 3
Idiopathic multicentric osteolysis Finding site False Bone structure Inferred relationship Some 2
Sponastrime dysplasia (disorder) Finding site False Bone structure Inferred relationship Some 2
Atelosteogenesis type 2 Finding site False Bone structure Inferred relationship Some 2
Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait. Finding site False Bone structure Inferred relationship Some 2
Achondrogenesis, type II Finding site True Bone structure Inferred relationship Some 2
Spondyloepiphyseal dysplasia with joint laxity (disorder) Finding site False Bone structure Inferred relationship Some 2
Namaqualand hip dysplasia Finding site False Bone structure Inferred relationship Some 2
Osteodysplastic primordial dwarfism, type 1 Finding site False Bone structure Inferred relationship Some 2
Symphalangism-brachydactyly syndrome Finding site False Bone structure Inferred relationship Some 2
Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur. Finding site False Bone structure Inferred relationship Some 2
Osteodysplastic primordial dwarfism, type 2 Finding site False Bone structure Inferred relationship Some 2
Yunis-Varon dysplasia (disorder) Finding site False Bone structure Inferred relationship Some 2
Congenital exostosis Finding site False Bone structure Inferred relationship Some 2
Brachydactyly syndrome type C (disorder) Finding site False Bone structure Inferred relationship Some 3
Dysostosis multiplex Finding site False Bone structure Inferred relationship Some 2
Mixed sclerosing bone dysplasia (disorder) Finding site False Bone structure Inferred relationship Some 2
Type III short rib polydactyly syndrome Finding site False Bone structure Inferred relationship Some 2
Short rib polydactyly syndrome Finding site False Bone structure Inferred relationship Some 2
Diaphyseal medullary stenosis with bone malignancy (disorder) Finding site False Bone structure Inferred relationship Some 3
Defects of the tubular (and flat) bones and/or axial skeleton Finding site False Bone structure Inferred relationship Some 2
Lenz-Majewski hyperostosis syndrome Finding site False Bone structure Inferred relationship Some 2
Hypochondrogenesis Finding site False Bone structure Inferred relationship Some 2
Osteopathia striata Finding site False Bone structure Inferred relationship Some 2
Polyostotic fibrous dysplasia of bone Finding site False Bone structure Inferred relationship Some 2
Kniest dysplasia Finding site False Bone structure Inferred relationship Some 2
Shwachman syndrome Finding site True Bone structure Inferred relationship Some 3
Jarcho-Levin syndrome Finding site False Bone structure Inferred relationship Some 2
Dysplasia epiphysealis hemimelica Finding site False Bone structure Inferred relationship Some 2
Osteochondrodysplasia Finding site False Bone structure Inferred relationship Some 2
Benign autosomal dominant osteopetrosis Finding site False Bone structure Inferred relationship Some 2
A rare hereditary patellar dysostosis characterised by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. Finding site False Bone structure Inferred relationship Some 2
Osteodysplastic primordial dwarfism Finding site False Bone structure Inferred relationship Some 2
Boomerang dysplasia Finding site False Bone structure Inferred relationship Some 2
Multiple epiphyseal dysplasia tarda type IIIa Finding site False Bone structure Inferred relationship Some 2
Chondrodysplasia punctata, Conradi-Hünermann type (disorder) Finding site False Bone structure Inferred relationship Some 2
A lysosomal storage disease with characteristics of coarse facial features, macular cherry red spot, and dysostosis multiplex. Clinical presentation can be heterogeneous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. Finding site True Bone structure Inferred relationship Some 2
Osteopetrosis - intermediate type Finding site False Bone structure Inferred relationship Some 2
Pachydermoperiostosis - familial Finding site False Bone structure Inferred relationship Some 2
Osteogenesis imperfecta, recessive perinatal lethal Finding site False Bone structure Inferred relationship Some 2
Dappled diaphyseal dysplasia (disorder) Finding site False Bone structure Inferred relationship Some 2
Atelosteogenesis (disorder) Finding site False Bone structure Inferred relationship Some 2
Adult fucosidosis (disorder) Finding site False Bone structure Inferred relationship Some 2
Fronto-frontal dysostosis (disorder) Finding site False Bone structure Inferred relationship Some 3
Osteogenesis imperfecta, type IV B Finding site False Bone structure Inferred relationship Some 2
Leri's pleonosteosis syndrome Finding site False Bone structure Inferred relationship Some 2
Metaphyseal chondrodysplasia Finding site False Bone structure Inferred relationship Some 2
Spondyloepiphyseal dysplasia tarda Finding site False Bone structure Inferred relationship Some 2
Spondylodysplasia, Luton type Finding site False Bone structure Inferred relationship Some 2
Thanatophoric dysplasia, type 1 (disorder) Finding site False Bone structure Inferred relationship Some 2
Osteogenesis imperfecta with blue sclerae AND normal teeth Finding site False Bone structure Inferred relationship Some 2

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Reference Sets

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

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

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