FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

48566001: Bone structure of extremity (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
198139011 Bone of limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
198140013 Bone of extremity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
495139012 Bone structure of extremity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
495140014 Bone structure of limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
786148018 Bone structure of extremity (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
198139011 Bone of limb en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
198139011 Bone of limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
198140013 Bone of extremity en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
198140013 Bone of extremity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
495139012 Bone structure of extremity en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
495139012 Bone structure of extremity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
495140014 Bone structure of limb en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
495140014 Bone structure of limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
786148018 Bone structure of extremity (body structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
786148018 Bone structure of extremity (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2322 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Bone structure of extremity Is a Regional bone structure true Inferred relationship Existential restriction modifier (core metadata concept)
Bone structure of extremity Is a Bone and/or joint structure of limb true Inferred relationship Existential restriction modifier (core metadata concept)
Bone structure of extremity partie de Entire bony skeleton false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Bone structure of extremity partie de Entire limb false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Bone structure of extremity Laterality Side true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Tetramelic monodactyly (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 2
Hallux varus, preaxial polysyndactyly syndrome (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 4
Absent radius, anogenital anomalies syndrome (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
tuberculose des os des membres, dactylite tuberculeuse Finding site False Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Thrombocythemia with distal limb defect Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 3
Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals, in the absence of renal disease. Autosomal recessive inheritance has been suggested. Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterised by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 3
Acrofacial dysostosis Kennedy Teebi type (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. Finding site False Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrofacial dysostosis Catania type (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrofacial dysostosis Palagonia type (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Campomelia Cumming type (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 2
Heart-hand syndrome Slovenian type (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Scholte syndrome Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 4
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 3
Patterson Stevenson Fontaine syndrome (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital pseudoarthrosis of limb (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs. Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Overlapping malignant neoplasm of bone and articular cartilage of limb Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 2
Fractures involving thorax with lower back and pelvis with limb(s) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 3
Closed fracture involving thorax with lower back and pelvis and limbs (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 5
Open fracture involving thorax with lower back and pelvis and limbs (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 3
Bony prominence of amputation stump Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary chondrosarcoma of bone of limb Finding site False Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Eye defects, arachnodactyly, cardiopathy syndrome Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Femur fibula ulna complex (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Rhizomelic dysplasia (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Robinow syndrome Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 4
Langer mesomelic dysplasia syndrome Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Nievergelt's syndrome Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Mesomelic dysplasia Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 2
Mesomelic dysplasia Kantaputra type (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Cleidorhizomelic syndrome (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 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 True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 3
Thoracic dysplasia and hydrocephalus syndrome (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive Robinow syndrome Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant Robinow syndrome (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 2
Reinhardt Pfeiffer mesomelic dysplasia Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly type A6 (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked spondyloepimetaphyseal dysplasia Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 2
Axial spondylometaphyseal dysplasia (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple epiphyseal dysplasia Lowry type Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 4
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 2
Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive omodysplasia Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Bone dysplasia lethal Holmgren type (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Smith McCort dysplasia (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Regressive spondylometaphyseal dysplasia (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplasia of bone of extremity (disorder) Finding site True Bone structure of extremity Inferred relationship Existential restriction modifier (core metadata concept) 1

Start Page 2 of 2

Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

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

Back to Start