FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.4  |  FHIR Version n/a  User: [n/a]

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


4776 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 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
Osteogenesis imperfecta with blue sclerae AND normal teeth Finding site False Bone structure Inferred relationship Some 2
Craniometadiaphyseal dysplasia Finding site False Bone structure Inferred relationship Some 2
Menkes kinky-hair syndrome Finding site False Bone structure Inferred relationship Some 2
Spondyloenchondrodysplasia Finding site False Bone structure Inferred relationship Some 2
Osteodysplasi Finding site False Bone structure Inferred relationship Some 2
kort costa-dysplasi-gruppen (med eller uden polydaktyli) Finding site False Bone structure Inferred relationship Some 2
Opsismodysplasia Finding site False Bone structure Inferred relationship Some 2
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Finding site False Bone structure Inferred relationship Some 2
Knoglekrumningsdysplasi Finding site False Bone structure Inferred relationship Some 2
Omodysplasi II Finding site False Bone structure Inferred relationship Some 2
Saldino-Mainzer dysplasia Finding site True Bone structure Inferred relationship Some 3
Infantile GM1 gangliosidosis Finding site False Bone structure Inferred relationship Some 2
Metachondromatosis (disorder) Finding site False Bone structure Inferred relationship Some 2
Dysplasias with significant membranous bone involvement (disorder) Finding site False Bone structure Inferred relationship Some 2
Carpal-tarsal osteolysis with nephropathy Finding site False Bone structure Inferred relationship Some 2
Juvenile idiopathic generalized osteoporosis Finding site False Bone structure Inferred relationship Some 2
Diastrophic dysplasia Finding site False Bone structure Inferred relationship Some 2
Kniest-Stickler-dysplasigruppe Finding site False Bone structure Inferred relationship Some 2
Scypho-patellar dysplasia (disorder) Finding site False Bone structure Inferred relationship Some 3
Craniometaphyseal dysplasia Finding site False Bone structure Inferred relationship Some 3
Rhizomelic chondrodysplasia punctata syndrome Finding site False Bone structure Inferred relationship Some 3
Pseudodiastrophic dysplasia Finding site False Bone structure Inferred relationship Some 2
Patella dysplasia Finding site False Bone structure Inferred relationship Some 3
Craniometaphyseal dysplasia - mild type Finding site True Bone structure Inferred relationship Some 3
3-M syndrome Finding site False Bone structure Inferred relationship Some 1
Congenital osteodystrophy Finding site True Bone structure Inferred relationship Some 1
Osteophyte of bone Finding site True Bone structure Inferred relationship Some 1
Hypoplastic chondrodystrophy Finding site True Bone structure Inferred relationship Some 3
Spheno-frontal dysostosis Finding site False Bone structure Inferred relationship Some 2
Kranielt hydromeningocele Finding site False Bone structure Inferred relationship Some 6
Congenital anomaly of bone and joint Finding site False Bone structure Inferred relationship Some 4
Hyperplastisk kondrodystrofi Finding site False Bone structure Inferred relationship Some 3
lymfopenisk agammaglobulinæmi kombineret med dværgvækstsyndrom med korte ekstremiteter Finding site False Bone structure Inferred relationship Some 4
Baller-Gerold syndrome Finding site False Bone structure Inferred relationship Some 5
Fronto-frontal dysostosis Finding site False Bone structure Inferred relationship Some 2
Stickler syndrome Finding site False Bone structure Inferred relationship Some 5
Leri-Weill dyschondrosteosis Finding site False Bone structure Inferred relationship Some 3
Holoanencephaly (disorder) Finding site False Bone structure Inferred relationship Some 3
Kongenit spinalt hydromeningocele Finding site False Bone structure Inferred relationship Some 5
Furst-Ostrums syndrom Finding site False Bone structure Inferred relationship Some 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Finding site False Bone structure Inferred relationship Some 3
Weill-Marchesani syndrome Finding site False Bone structure Inferred relationship Some 4
Shwachman syndrome Finding site False Bone structure Inferred relationship Some 4
Maffucci syndrome Finding site True Bone structure Inferred relationship Some 3
Short rib-polydactyly syndrome, Majewski type Finding site False Bone structure Inferred relationship Some 5
Polydaktyli med neonatal kondrodystrofi, type I Finding site False Bone structure Inferred relationship Some 5
Stickler syndrome Finding site False Bone structure Inferred relationship Some 7
Oculodento-osseous dysplasia - severe type Finding site False Bone structure Inferred relationship Some 6
Stickler syndrome Finding site True Bone structure Inferred relationship Some 6
Oculodento-osseous dysplasia - mild type Finding site False Bone structure Inferred relationship Some 6
Achondrogenesis, type IA Finding site False Bone structure Inferred relationship Some 3
Severe achondrolasia with developmental delay and acanthosis nigricans Finding site False Bone structure Inferred relationship Some 3
Achondrogenesis, type IB Finding site False Bone structure Inferred relationship Some 3
Achondrogenesis (disorder) Finding site False Bone structure Inferred relationship Some 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 (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 5
Achondroplasia Finding site False Bone structure Inferred relationship Some 5
Achondrogenesis, type II Finding site False Bone structure Inferred relationship Some 3
Acromicric dysplasia Finding site True Bone structure Inferred relationship Some 3
Achondroplasia Finding site False Bone structure Inferred relationship Some 4
Ehlers-Danlos' syndrom, dominant type 4 Finding site False Bone structure Inferred relationship Some 2
Ehlers-Danlos' syndrom, recessiv type 4 Finding site False Bone structure Inferred relationship Some 2
Ehlers-Danlos' syndrom, type 1 Finding site False Bone structure Inferred relationship Some 2
Ehlers-Danlos' syndrom, prokollagenproteinaseresistent Finding site False Bone structure Inferred relationship Some 2
Familial articular hypermobility syndrome (disorder) Finding site False Bone structure Inferred relationship Some 2
Ehlers-Danlos' syndrom, type 2 Finding site False Bone structure Inferred relationship Some 2
Vascular Ehlers-Danlos syndrome Finding site False Bone structure Inferred relationship Some 2
Periodontal Ehlers-Danlos syndrome (disorder) Finding site False Bone structure Inferred relationship Some 4
Ehlers-Danlos syndrome, dysfibronectinemic Finding site False Bone structure Inferred relationship Some 2
Ehlers-Danlos syndrome, hydroxylysine-deficient Finding site False Bone structure Inferred relationship Some 2
Arthrochalasia Ehlers-Danlos syndrome (disorder) Finding site False Bone structure Inferred relationship Some 2
X-linked Ehlers-Danlos syndrome Finding site False Bone structure Inferred relationship Some 2
Cutis laxa, x-linked Finding site False Bone structure Inferred relationship Some 2
Ehlers-Danlos' syndrom, ikke-hydroxylysinfattig okulær type Finding site False Bone structure Inferred relationship Some 2
Ehlers-Danlos' syndrom, dominant type 4 Finding site False Bone structure Inferred relationship Some 3
Ehlers-Danlos' syndrom, recessiv type 4 Finding site False Bone structure Inferred relationship Some 3
Ehlers-Danlos' syndrom, type 1 Finding site False Bone structure Inferred relationship Some 3
Ehlers-Danlos' syndrom, prokollagenproteinaseresistent Finding site False Bone structure Inferred relationship Some 3
Ehlers-Danlos' syndrom, type 2 Finding site False Bone structure Inferred relationship Some 3
Vascular Ehlers-Danlos syndrome Finding site True Bone structure Inferred relationship Some 3
Periodontal Ehlers-Danlos syndrome (disorder) Finding site True Bone structure Inferred relationship Some 3
Ehlers-Danlos syndrome (disorder) Finding site True Bone structure Inferred relationship Some 2
Ehlers-Danlos syndrome, dysfibronectinemic Finding site True Bone structure Inferred relationship Some 3
Ehlers-Danlos syndrome, hydroxylysine-deficient Finding site True Bone structure Inferred relationship Some 3
Arthrochalasia Ehlers-Danlos syndrome (disorder) Finding site True Bone structure Inferred relationship Some 3
X-linked Ehlers-Danlos syndrome Finding site True Bone structure Inferred relationship Some 3
Cutis laxa, x-linked Finding site True Bone structure Inferred relationship Some 3
Ehlers-Danlos' syndrom, ikke-hydroxylysinfattig okulær type Finding site False Bone structure Inferred relationship Some 3
Corneafragilitet, keratoglobus, blå sklera og hypermobile led Finding site False Bone structure Inferred relationship Some 5
Hypermobile Ehlers-Danlos syndrome (disorder) Finding site False Bone structure Inferred relationship Some 3
Corneafragilitet, keratoglobus, blå sklera og hypermobile led Finding site False Bone structure Inferred relationship Some 4
Osteoporosis that results from medical conditions or treatments that interfere with the attainment of peak bone mass, contributing to the structural deterioration of bone tissue. Finding site True Bone structure Inferred relationship Some 1
Tarsal-carpal coalition syndrome Finding site False Bone structure Inferred relationship Some 1
Bizarre parosteal osteochondromatous proliferation (disorder) Finding site True Bone structure Inferred relationship Some 2
Spondyloenchondrodysplasia with immune dysregulation Finding site False Bone structure Inferred relationship Some 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 Some 5
Bone structure of clavicle and/or scapula and/or humerus (body structure) Is a False Bone structure Inferred relationship Some
Osteopetrosis Finding site True Bone structure Inferred relationship Some 1
Congenital anomaly of skeletal bone Finding site True Bone structure Inferred relationship Some 1
Geleophysic dysplasia Finding site True Bone structure Inferred relationship Some 1
Salmonella osteomyelitis Finding site False Bone structure Inferred relationship Some 4
Hanhart's syndrome Finding site True Bone structure Inferred relationship Some 1

Start Previous Page 109 of 120 Next End


Reference Sets

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

Back to Start