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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
Torg type osteolysis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skeletal bone Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Adult GM1 gangliosidosis Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Chondrodysplasia (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Henck-Assman disease Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Enchondromatosis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloenchondromatosis with basal ganglia calcification (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal retarded ossification syndromes (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Grebe syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Frontometaphyseal dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepimetaphysäre Dysplasie mit Überstreckbarkeit der Gelenke Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteopoikilosis (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe achondrolasia with developmental delay and acanthosis nigricans Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Larsen syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
hydroméningocèle crânienne congénitale Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 2
Thanatophoric dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Thanatophoric dysplasia, type 2 Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Rolland-Debuqois syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteopetrosis with renal tubular acidosis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Hyperphosphatasemia tarda Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondylodysplasia (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Bruck syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Fibrous dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Sclerosteosis (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteoporosis with pseudoglioma Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Robinow syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Pseudohypoparathyroidism type I B Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Achondrogenesis, type IB Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple synostosis syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Hanhart's syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Juvenile GM1 gangliosidosis (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
dysplasie ostéodysplasique microcéphalique type Saul-Wilson Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Osteomesopycnosis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteopetrosis - delayed type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Acromesomelic dysplasia Hunter-Thompson type (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Cranioectodermal dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Dysplasia with decreased bone density Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Metaphyseal chondrodysplasia, Schmid type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Kniest-Stickler dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteochondrodysplasia with osteopetrosis (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepiphyseal dysplasia congenita group (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteodysplastic dysplasia, type I (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Greig cephalopolysyndactyly syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Oto-palato-digital syndrome, type II Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteogenesis imperfecta, perinatal lethal Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Endosteal hyperostoses (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
I-cell disease (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple dislocations with dysplasia (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Acromicric dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal chondrodysplasia with fragmented bone (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Transient infantile osteopetrosis (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Weissenbacher-Zweymuller syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Skeletal dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteogenesis imperfecta type IIB Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Disorganised development of cartilaginous and fibrous components of the skeleton Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Dysplasia with defective mineralization Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Idiopathic osteolyses Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteosclerosis - Stanescu type Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteopetrosis (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Axial osteosclerosis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Accessory ossification center (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Achondrogenesis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Metaphyseal chondrodysplasia, McKusick type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondyloepimetaphyseal disorder Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple epiphyseal dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Pseudohypoparathyroidism type I A Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Greenberg dysplasia (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Kyphomelic dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Mesomelic dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Cole-Carpenter dysplasia (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Hyperphosphatasemia with bone disease Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondyloenchondromatosis (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Winchester syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
GM1 gangliosidosis (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Thoracic hydromeningocele Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
X-linked dominant chondrodysplasia punctata of Happle Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Multiple congenital exostosis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Infantile fucosidosis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal Kniest-like syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Salla disease Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Astley-Kendall dysplasia (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Juvenile fucosidosis (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Pseudo-Hurler polydystrophy Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Oculodento-osseous dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Melnick-Needles syndrome Finding site False 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 False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Progressive pseudorheumatoid dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Wolcott-Rallison dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Type IV short rib polydactyly syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Fucosidosis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniometaphyseal dysplasia - severe type (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Mannosidosis, type I Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Beta-D-mannosidosis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteogenesis imperfecta type III (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Metatropic dysplasia (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Langer mesomelic dysplasia syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteogenesis imperfecta, dominant perinatal lethal Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteoplastic dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachyolmia - Maroteaux type (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2

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Reference Sets

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

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