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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
Osteogenesis imperfecta with blue sclerae AND normal teeth Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniometadiaphyseal dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Menkes kinky-hair syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloenchondrodysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteodysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Short rib dysplasia group (with or without polydactyly) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Opsismodysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Bent bone dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Omodysplasia II Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Saldino-Mainzer dysplasia Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Infantile GM1 gangliosidosis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Metachondromatosis (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Dysplasias with significant membranous bone involvement Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Carpal-tarsal osteolysis with nephropathy Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Juvenile idiopathic generalised osteoporosis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Diastrophic dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Kniest-Stickler dysplasia group Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Scypho-patellar dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Craniometaphyseal dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Rhizomelic chondrodysplasia punctata syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Pseudodiastrophic dysplasia (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Patella dysplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Craniometaphyseal dysplasia - mild type Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
3-M syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital osteodystrophy Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteophyte of bone (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypoplastic chondrodystrophy Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Spheno-frontal dysostosis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
hydroméningocèle crânienne congénitale Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Congenital anomaly of bone and joint Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Hyperplastic chondrodystrophy Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Baller-Gerold syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Fronto-frontal dysostosis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Stickler syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Leri-Weill dyschondrosteosis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Holoanencephaly (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital spinal hydromeningocele Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Furst-Ostrum syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Weill-Marchesani syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Shwachman syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Maffucci syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Short rib-polydactyly syndrome, Majewski type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Short rib-polydactyly syndrome, non-Majewski type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Stickler syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 7
Oculodento-osseous dysplasia - severe type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Stickler syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Oculodento-osseous dysplasia - mild type Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Achondrogenesis, type IA Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe achondrolasia with developmental delay and acanthosis nigricans Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Achondrogenesis, type IB Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Achondrogenesis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
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) 5
Achondroplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Achondrogenesis, type II (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Acromicric dysplasia Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Achondroplasia Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Ehlers-Danlos syndrome, dominant type 4 Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome, recessive type 4 Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
syndrome d'Ehlers-Danlos type 1 Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
syndrome d'Ehlers-Danlos de type 7B Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial articular hypermobility syndrome (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
syndrome d'Ehlers-Danlos type 2 Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome, type 4 Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Periodontal Ehlers-Danlos syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Ehlers-Danlos syndrome, dysfibronectinemic (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Arthrochalasia Ehlers-Danlos syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked Ehlers-Danlos syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Cutis laxa, x-linked Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
syndrome d'Ehlers-Danlos de type cyphoscoliotique Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome, dominant type 4 Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome, recessive type 4 Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
syndrome d'Ehlers-Danlos type 1 Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
syndrome d'Ehlers-Danlos de type 7B Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
syndrome d'Ehlers-Danlos type 2 Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome, type 4 Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Periodontal Ehlers-Danlos syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome, dysfibronectinemic (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Arthrochalasia Ehlers-Danlos syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked Ehlers-Danlos syndrome Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Cutis laxa, x-linked Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
syndrome d'Ehlers-Danlos de type cyphoscoliotique Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Ehlers-Danlos syndrome, type 3 Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Secondary osteoporosis Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Tarsal-carpal coalition syndrome Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Bizarre parosteal osteochondromatous proliferation Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloenchondrodysplasia with immune dysregulation (disorder) Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 2
An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance. Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Bone structure of clavicle and/or scapula and/or humerus (body structure) Is a False Bone structure Inferred relationship Existential restriction modifier (core metadata concept)
Osteopetrosis (disorder) Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Geleophysic dysplasia Finding site True Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Salmonella osteomyelitis Finding site False Bone structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Hanhart's syndrome 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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