272673000: Bone structure (body structure)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\...

\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).\Structure of bone organ\Bone structure

\Body system structure\Structure of musculoskeletal system (body structure)\Skeletal system structure\...

\Structure of bony skeleton\Bony skeleton subdivision\Bone structure

\Bone and/or joint structure (body structure)\Bone 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

3318101000005115 Knoglestruktur da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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	del af	Entire body as a whole	false	Inferred relationship	Some
Bone structure	Is a	Skeletal system structure	false	Inferred relationship	Some
Bone structure	del af	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
Torg type osteolysis	Finding site	False	Bone structure	Inferred relationship	Some	2
Congenital anomaly of skeletal bone	Finding site	False	Bone structure	Inferred relationship	Some	2
Adult GM1 gangliosidosis	Finding site	True	Bone structure	Inferred relationship	Some	2
Chondrodysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Henck-Assmans sygdom	Finding site	False	Bone structure	Inferred relationship	Some	2
Enchondromatosis (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Spondyloenchondromatosis with basal ganglia calcification (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Lethal retarded ossification syndromes	Finding site	False	Bone structure	Inferred relationship	Some	2
Grebe syndrome	Finding site	True	Bone structure	Inferred relationship	Some	2
Frontometaphyseal dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Spondyloepimetafyseal dysplasi med løshed i led	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteopoikilosis	Finding site	False	Bone structure	Inferred relationship	Some	2
Severe achondrolasia with developmental delay and acanthosis nigricans	Finding site	False	Bone structure	Inferred relationship	Some	1
Larsen syndrome	Finding site	False	Bone structure	Inferred relationship	Some	3
Kranielt hydromeningocele	Finding site	False	Bone structure	Inferred relationship	Some	5
An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group. Clinical signs include slowly developing intellectual disability beginning with clumsiness, late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis. Caused by mutations in gene AGU located on 4q34.3. Transmission is autosomal recessive.	Finding site	False	Bone structure	Inferred relationship	Some	2
Thanatophoric dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Thanatophoric dysplasia, type 2 (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Rolland-Debuqois syndrome	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteopetrosis with renal tubular acidosis	Finding site	False	Bone structure	Inferred relationship	Some	2
Hyperphosphatasemia tarda	Finding site	True	Bone structure	Inferred relationship	Some	3
Spondylodysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Bruck syndrome	Finding site	True	Bone structure	Inferred relationship	Some	2
Fibrøs dysplasi	Finding site	False	Bone structure	Inferred relationship	Some	2
Sclerosteosis	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteoporosis with pseudoglioma	Finding site	False	Bone structure	Inferred relationship	Some	2
A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive.	Finding site	False	Bone structure	Inferred relationship	Some	2
A type of pseudohypoparathyroidism with characteristics of localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. Severity of symptoms can vary greatly between patients and even among kindreds. The majority of cases are sporadic, but an autosomal dominant transmission has also been described. About 70% of patients display methylation defects, sporadic or genetic-based, at GNAS (20q13.2-q13.3) differentially methylated regions (DMRs).	Finding site	False	Bone structure	Inferred relationship	Some	2
Achondrogenesis, type IB	Finding site	False	Bone structure	Inferred relationship	Some	2
Multiple synostosis syndrome	Finding site	False	Bone structure	Inferred relationship	Some	2
Hanhart's syndrome	Finding site	False	Bone structure	Inferred relationship	Some	2
Juvenile GM1 gangliosidosis	Finding site	False	Bone structure	Inferred relationship	Some	2
Mikrocefalisk osteodysplastisk dysplasi	Finding site	False	Bone structure	Inferred relationship	Some	3
Osteomesopyknose	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteopetrosis - delayed type	Finding site	False	Bone structure	Inferred relationship	Some	2
Acromesomelic dysplasia Hunter-Thompson type (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Cranioectodermal dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Dysplasia with decreased bone density	Finding site	False	Bone structure	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, Schmid type	Finding site	False	Bone structure	Inferred relationship	Some	2
Kniest-Stickler dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteochondrodysplasia with osteopetrosis	Finding site	True	Bone structure	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia congenita	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteodysplastic dysplasia, type I (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Greig cephalopolysyndactyly syndrome	Finding site	False	Bone structure	Inferred relationship	Some	2
A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected.	Finding site	False	Bone structure	Inferred relationship	Some	1
Osteogenesis imperfecta, perinatal lethal	Finding site	False	Bone structure	Inferred relationship	Some	2
Endosteal hyperostoses (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
I-cell disease	Finding site	False	Bone structure	Inferred relationship	Some	2
Multiple dislocations with dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Acromicric dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Lethal chondrodysplasia with fragmented bone (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Transient infantile osteopetrosis	Finding site	True	Bone structure	Inferred relationship	Some	1
Metafyseal kondrodysplasi, McKusick-type, med associeret immundefekt	Finding site	False	Bone structure	Inferred relationship	Some	3
Weissenbacher-Zweymuller syndrome	Finding site	False	Bone structure	Inferred relationship	Some	1
Skeletal dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteogenesis imperfecta type IIB presents with normal or thin ribs with some fractures, discontinuous beaded ribs and some under-modeling of the femur. The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism.	Finding site	False	Bone structure	Inferred relationship	Some	2
Disorganised development of cartilaginous and fibrous components of the skeleton	Finding site	False	Bone structure	Inferred relationship	Some	2
Dysplasia with defective mineralization	Finding site	True	Bone structure	Inferred relationship	Some	2
Idiopathic osteolyses	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteosclerosis - Stanescu type	Finding site	True	Bone structure	Inferred relationship	Some	2
Osteopetrosis	Finding site	False	Bone structure	Inferred relationship	Some	2
A very rare benign bone disorder with characteristics of bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. The disease may be underdiagnosed due to confusion with autosomal dominant osteopetrosis. The condition is usually found incidentally on radiological examination and is very mild, sometimes accompanied by pain. Increased density of the vertebral plates, pelvis and occasionally of the upper femur have been reported, as well as kyphoscoliosis and femoral cysts.	Finding site	False	Bone structure	Inferred relationship	Some	2
Accessory ossification center	Finding site	False	Bone structure	Inferred relationship	Some	2
Achondrogenesis (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, McKusick type	Finding site	False	Bone structure	Inferred relationship	Some	3
Spondyloepimetaphyseal disorder	Finding site	False	Bone structure	Inferred relationship	Some	2
Multiple epiphyseal dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Pseudohypoparathyroidism type I A	Finding site	False	Bone structure	Inferred relationship	Some	2
Greenberg dysplasia (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Kyphomelic dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Mesomelic dysplasia (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Cole-Carpenter dysplasia (disorder)	Finding site	True	Bone structure	Inferred relationship	Some	2
Hyperphosphatasemia with bone disease	Finding site	False	Bone structure	Inferred relationship	Some	3
Spondyloenchondromatosis (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Winchester syndrome	Finding site	False	Bone structure	Inferred relationship	Some	2
GM1 gangliosidosis	Finding site	False	Bone structure	Inferred relationship	Some	2
Torakalt hydromeningocele	Finding site	False	Bone structure	Inferred relationship	Some	4
X-bundet dominant chondrodysplasia punctata	Finding site	False	Bone structure	Inferred relationship	Some	3
Multiple congenital exostosis	Finding site	False	Bone structure	Inferred relationship	Some	2
Infantile fucosidosis (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Lethal Kniest-like syndrome	Finding site	False	Bone structure	Inferred relationship	Some	2
Salla disease	Finding site	False	Bone structure	Inferred relationship	Some	2
Astley-Kendall dysplasia (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Juvenile fucosidosis (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Pseudo-Hurler polydystrophy	Finding site	False	Bone structure	Inferred relationship	Some	2
Oculodento-osseous dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Melnick-Needles syndrome	Finding site	False	Bone structure	Inferred relationship	Some	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 (localized to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24.	Finding site	False	Bone structure	Inferred relationship	Some	4
Progressive pseudorheumatoid dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Wolcott-Rallison dysplasia (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Type IV short rib polydactyly syndrome	Finding site	False	Bone structure	Inferred relationship	Some	2
Fucosidosis is an extremely rare lysosomal storage disorder with characteristics of a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.	Finding site	False	Bone structure	Inferred relationship	Some	2
Craniometaphyseal dysplasia - severe type (disorder)	Finding site	True	Bone structure	Inferred relationship	Some	3
Mannosidosis, type I	Finding site	False	Bone structure	Inferred relationship	Some	2
A very rare lysosomal storage disease with characteristics of developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteogenesis imperfecta type III (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Metatropic dysplasia	Finding site	False	Bone structure	Inferred relationship	Some	2
Langer mesomelic dysplasia syndrome	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteogenesis imperfecta, dominant perinatal lethal	Finding site	False	Bone structure	Inferred relationship	Some	2
Osteoplastic dysplasia (disorder)	Finding site	False	Bone structure	Inferred relationship	Some	2
Brachyolmia - Maroteaux type (disorder)	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)

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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
3318101000005115	Knoglestruktur	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)