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:

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
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
46,XX disorder of sex development with skeletal anomalies syndrome	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterised by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Osteolysis following surgical procedure on skeletal system	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Primary chondrosarcoma of bone	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hyperplasia of bone	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteopenia caused by drug (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Premenopausal idiopathic osteoporosis (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteoporosis due to malabsorption (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Infection of bone caused by Echinococcus (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteonecrosis caused by ionizing radiation	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Premenopausal idiopathic osteopenia (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteopenia following menopause (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteopenia due to disuse (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Attention to endoprosthesis of bone	Procedure site - Indirect (attribute)	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Osteoporosis co-occurrent and due to multiple myeloma	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Francois syndrome	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Plain X-ray for bone length measurement (procedure)	Procedure site - Direct (attribute)	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Plain X-ray for bone age	Procedure site - Direct (attribute)	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)	1
CT for bone length measurement	Procedure site - Direct (attribute)	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Connective tissue disorder due to lysyl hydroxylase-3 deficiency	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondyloperipheral dysplasia with short ulna syndrome (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Larsen-like osseous dysplasia, short stature syndrome	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondyloepimetaphyseal dysplasia anauxetic type	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloperipheral dysplasia (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chondroectodermal dysplasia with night blindness syndrome (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Short stature homeobox related short stature (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, the first phenotype; patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities. The second phenotype; short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly. The third phenotype; patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces, as well as sclerotic and cystic changes on imaging.	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cerebrofacioarticular syndrome (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Chondroectodermal dysplasia with night blindness syndrome (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
White forelock with malformations syndrome	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bipartite ossification of sternebra	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bipartite ossification of centrum of lumbar vertebra	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bipartite ossification of centrum of cervical vertebra	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bipartite ossification of centrum of thoracic vertebra	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bipartite ossification of interparietal bone	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bipartite ossification of centrum of sacral vertebra (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bipartite ossification of supraoccipital bone	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chondroectodermal dysplasia (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Xanthoma of bone (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare, congenital, vascular anomaly syndrome characterised by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and oedematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Incomplete ossification of ilium	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Incomplete ossification of ischium	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare, congenital, vascular anomaly syndrome characterised by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and oedematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Incomplete ossification of pubis	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Incomplete ossification of bone (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Primary bone lymphoma	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloepimetaphyseal dysplasia with multiple dislocations	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterised by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (including long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A very rare syndrome characterised by progressive loss of bone, usually the carpal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Avulsion of ligament with bony fragment	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Otopalatodigital syndrome	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteoporotic kyphosis	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Pathologic fracture of bone at site of neoplasm (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
plusieurs fractures pathologiques	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
X-linked spondyloepimetaphyseal dysplasia	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Metaphyseal chondrodysplasia Kaitila type (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rhizomelic syndrome Urbach type	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Skeletal actinomycosis	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Axial spondylometaphyseal dysplasia (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Deep full thickness burn involving bone (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Parietal foramina with clavicular hypoplasia	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Weismann Netter syndrome (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Nail-patella syndrome (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Hall Riggs syndrome	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Genochondromatosis type 2 (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Gnathodiaphyseal dysplasia	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Parastremmatic dwarfism (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)	1
CHST3-related skeletal dysplasia	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mesomelic dysplasia Kantaputra type (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cleidorhizomelic syndrome (disorder)	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
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)	4
Spondyloepimetaphyseal dysplasia Shohat type (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Weill-Marchesani syndrome	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Multicentric osteolysis nodulosis arthropathy spectrum	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Frank-Ter Haar syndrome	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloepimetaphyseal dysplasia Missouri type	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cardiospondylocarpofacial syndrome (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterised by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondylometaphyseal dysplasia Schmidt type (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Skeletal dysplasia with intellectual disability syndrome (disorder)	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Camptodactyly syndrome Guadalajara type 2	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Miller syndrome	Finding site	True	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hypoplastic chondrodystrophy	Finding site	False	Bone structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Diaphanospondylodysostosis	Finding site	True	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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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