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113192009: Skeletal system 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
186922018 Skeletal system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
190686012 Skeleton en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
381551010 Skeletal system structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
647277018 Skeletal system structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4656421000005116 struktur af skeletsystemet da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

7925 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Skeletal system structure Is a Structure of musculoskeletal system (body structure) true Inferred relationship Some
Skeletal system structure del af Entire musculoskeletal system false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
anden luksation eller subluksation forårsaget af fødselstraume Finding site False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, artrit Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, akromegali Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, pædiatrisk, traume Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, dialyseopfølgning Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, pædiatrisk, knoglealder over 16 Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Skeletlæsion, ikke nærmere specificeret - fødsel Finding site False Skeletal system structure Inferred relationship Some 1
Skeletal injury due to birth trauma Finding site True Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse af foster Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
røntgenoversigt over knogler mhp. multiple myelomer Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, pædiatrisk Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, pædiatrisk, knoglealder under 16 Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, pædiatrisk, dysplasi Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, voksen Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, dialyse Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, metabolisk Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, metastatisk Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, Pagets Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse af foster Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, perifer Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Neoplasm of skeletal system (disorder) Finding site False Skeletal system structure Inferred relationship Some 1
radiologisk undersøgelse, ossøs overvågning, komplet Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, pædiatrisk, knoglealder under 16 Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Insertion of bone pin with skeletal traction (procedure) Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, metastatisk Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, metabolisk Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, artrit Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, Pagets Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, dialyse Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, pædiatrisk, dysplasi Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, pædiatrisk, traume Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, voksen Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, dialyseopfølgning Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, pædiatrisk Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, pædiatrisk, knoglealder over 16 Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Knogleundersøgelse, akromegali Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
røntgenoversigt over knogler mhp. multiple myelomer Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Overlapping malignant neoplasm of bone and articular cartilage Finding site False Skeletal system structure Inferred relationship Some 1
Malignant neoplasm of skeletal system (disorder) Finding site False Skeletal system structure Inferred relationship Some 1
Diaphyseal medullary stenosis with bone malignancy (disorder) Finding site False Skeletal system structure Inferred relationship Some 2
Neoplasm of uncertain behavior of skeletal system (disorder) Finding site False Skeletal system structure Inferred relationship Some 1
Diaphyseal medullary stenosis with bone malignancy (disorder) Finding site False Skeletal system structure Inferred relationship Some 2
Neoplasm of skeletal system (disorder) Finding site True Skeletal system structure Inferred relationship Some 1
Overlapping malignant neoplasm of bone and articular cartilage Finding site False Skeletal system structure Inferred relationship Some 1
Malignant neoplasm of skeletal system (disorder) Finding site True Skeletal system structure Inferred relationship Some 1
Neoplasm of uncertain behavior of skeletal system (disorder) Finding site True Skeletal system structure Inferred relationship Some 1
Insertion of bone pin with skeletal traction (procedure) Procedure site - Direct (attribute) True Skeletal system structure Inferred relationship Some 1
Closed reduction of traumatic injury of epiphyseal plate and skeletal traction (procedure) Procedure site - Direct (attribute) True Skeletal system structure Inferred relationship Some 2
Primary closed reduction of traumatic dislocation of joint and skeletal traction (procedure) Procedure site - Direct (attribute) True Skeletal system structure Inferred relationship Some 2
post mortem-røntgenundersøgelse - knoglerne Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 2
Postmortem skeletal survey using radiographic imaging Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 1
Patellapexy Procedure site - Direct (attribute) True Skeletal system structure Inferred relationship Some 3
reponering vha. sømning Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 3
Fixation of hip Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 2
Skeletal fixation procedure Procedure site - Direct (attribute) True Skeletal system structure Inferred relationship Some 2
Percutaneous skeletal fixation of dislocation of inferior radioulnar joint structure (procedure) Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 2
Percutaneous skeletal fixation of dislocation of interphalangeal joint of foot with manipulation (procedure) Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 3
Percutaneous skeletal fixation of dislocation of carpometacarpal joint with manipulation (procedure) Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 3
Percutaneous skeletal fixation of dislocation of interphalangeal joint with manipulation (procedure) Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 3
Percutaneous skeletal fixation of dislocation of metacarpophalangeal joint with manipulation (procedure) Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 3
Percutaneous skeletal fixation of dislocation of metatarsophalangeal joint with manipulation (procedure) Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 3
Percutaneous skeletal fixation of dislocation of talocalcaneonavicular joint with manipulation (procedure) Procedure site - Direct (attribute) False Skeletal system structure Inferred relationship Some 3
Cartilage structure (body structure) Is a True Skeletal system structure Inferred relationship Some
Disseminated idiopathic skeletal hyperostosis Finding site False Skeletal system structure Inferred relationship Some 4
Articular system structure (body structure) Is a True Skeletal system structure Inferred relationship Some
Hyperphosphatasemia with bone disease Finding site True Skeletal system 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 Skeletal system structure Inferred relationship Some 2
3-M syndrome Finding site True Skeletal system structure Inferred relationship Some 1
Tarsal-carpal coalition syndrome Finding site True Skeletal system structure Inferred relationship Some 1
Osteodysplastic dysplasia, type II (disorder) Finding site True Skeletal system structure Inferred relationship Some 1
Achondrogenesis, type IB Finding site True Skeletal system structure Inferred relationship Some 2
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) Finding site True Skeletal system structure Inferred relationship Some 1
Brakyraki Finding site False Skeletal system structure Inferred relationship Some 3
Brachyolmia Finding site False Skeletal system structure Inferred relationship Some 3
Achondrogenesis (disorder) Finding site True Skeletal system structure Inferred relationship Some 2
Mixed sclerosing bone dysplasia (disorder) Finding site True Skeletal system structure Inferred relationship Some 1
Osteoplastic dysplasia (disorder) Finding site True Skeletal system structure Inferred relationship Some 1
Melorheostosis (disorder) Finding site True Skeletal system structure Inferred relationship Some 2
Diaphyseal medullary stenosis with bone malignancy (disorder) Finding site True Skeletal system structure Inferred relationship Some 1
Achondroplasia Finding site False Skeletal system structure Inferred relationship Some 2
Osteodysplastic dysplasia, type I (disorder) Finding site True Skeletal system structure Inferred relationship Some 1
Achondrogenesis, type IA Finding site True Skeletal system 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 True Skeletal system structure Inferred relationship Some 4
Infantile cortical hyperostosis Finding site False Skeletal system structure Inferred relationship Some 2
Atelosteogenese/diastrofisk dysplasi Finding site False Skeletal system structure Inferred relationship Some 2
Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. Finding site False Skeletal system structure Inferred relationship Some 1
Atelosteogenesis type 2 Finding site False Skeletal system 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 Skeletal system structure Inferred relationship Some 4
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Finding site False Skeletal system structure Inferred relationship Some 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 Skeletal system structure Inferred relationship Some 3
A rare genetic primary bone dysplasia with increased bone density disorder with characteristics of bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo/laryngomalacia, and astigmatic myopia are also associated. Finding site True Skeletal system structure Inferred relationship Some 1
A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses. Finding site True Skeletal system structure Inferred relationship Some 1
Severe achondrolasia with developmental delay and acanthosis nigricans Finding site False Skeletal system structure Inferred relationship Some 5
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 True Skeletal system structure Inferred relationship Some 2
An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. Finding site False Skeletal system structure Inferred relationship Some 3
Reunion Island Larsen-like syndrome Finding site False Skeletal system structure Inferred relationship Some 1
Brachyolmia - Maroteaux type (disorder) Finding site False Skeletal system structure Inferred relationship Some 3
A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterised by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. Finding site False Skeletal system structure Inferred relationship Some 3
An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Finding site True Skeletal system structure Inferred relationship Some 2
An extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (for example anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. Finding site True Skeletal system structure Inferred relationship Some 1
Marshall-Smith syndrome Finding site True Skeletal system structure Inferred relationship Some 1

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Reference Sets

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

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