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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

4861 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 Part of Entire body as a whole false Inferred relationship Some
Bone structure Is a Skeletal system structure false Inferred relationship Some
Bone structure Part of 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
Torg type osteolysis Finding site False Bone structure Inferred relationship Some 2
Congenital anomaly of skeletal bone Finding site False Bone structure Inferred relationship Some 2
Adult GM1 gangliosidosis Finding site True Bone structure Inferred relationship Some 2
Chondrodysplasia Finding site False Bone structure Inferred relationship Some 2
Henck-Assman disease Finding site False Bone structure Inferred relationship Some 2
Enchondromatosis Finding site False Bone structure Inferred relationship Some 2
Spondyloenchondromatosis with basal ganglia calcification (disorder) Finding site False Bone structure Inferred relationship Some 2
Lethal retarded ossification syndromes Finding site False Bone structure Inferred relationship Some 2
Grebe syndrome Finding site True Bone structure Inferred relationship Some 2
Frontometaphyseal dysplasia Finding site False Bone structure Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia with joint laxity Finding site False Bone structure Inferred relationship Some 2
Osteopoikilosis Finding site False Bone structure Inferred relationship Some 2
Severe achondrolasia with developmental delay and acanthosis nigricans Finding site False Bone structure Inferred relationship Some 1
Larsen syndrome Finding site False Bone structure Inferred relationship Some 3
Hydromeningocele - cranial Finding site False Bone structure Inferred relationship Some 5
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids. Finding site False Bone structure Inferred relationship Some 2
Thanatophoric dysplasia Finding site False Bone structure Inferred relationship Some 2
Thanatophoric dysplasia, type 2 (disorder) Finding site False Bone structure Inferred relationship Some 2
Rolland-Debuqois syndrome Finding site False Bone structure Inferred relationship Some 2
Osteopetrosis with renal tubular acidosis Finding site False Bone structure Inferred relationship Some 2
Hyperphosphatasemia tarda Finding site True Bone structure Inferred relationship Some 3
Spondylodysplasia Finding site False Bone structure Inferred relationship Some 2
Bruck syndrome Finding site True Bone structure Inferred relationship Some 2
Fibrous dysplasia Finding site False Bone structure Inferred relationship Some 2
Sclerosteosis Finding site False Bone structure Inferred relationship Some 2
Osteoporosis with pseudoglioma Finding site False Bone structure Inferred relationship Some 2
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. Finding site False Bone structure Inferred relationship Some 2
Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. Finding site False Bone structure Inferred relationship Some 2
Achondrogenesis, type IB Finding site False Bone structure Inferred relationship Some 2
Multiple synostosis syndrome Finding site False Bone structure Inferred relationship Some 2
Hanhart's syndrome Finding site False Bone structure Inferred relationship Some 2
Juvenile GM1 gangliosidosis Finding site False Bone structure Inferred relationship Some 2
Microcephalic osteodysplastic dysplasia Finding site False Bone structure Inferred relationship Some 3
Osteomesopycnosis Finding site False Bone structure Inferred relationship Some 2
Osteopetrosis - delayed type Finding site False Bone structure Inferred relationship Some 2
Acromesomelic dysplasia Hunter-Thompson type (disorder) Finding site False Bone structure Inferred relationship Some 2
Cranioectodermal dysplasia Finding site False Bone structure Inferred relationship Some 2
Dysplasia with decreased bone density Finding site False Bone structure Inferred relationship Some 2
Metaphyseal chondrodysplasia, Schmid type Finding site False Bone structure Inferred relationship Some 2
Kniest-Stickler dysplasia Finding site False Bone structure Inferred relationship Some 2
Osteochondrodysplasia with osteopetrosis Finding site True Bone structure Inferred relationship Some 2
Spondyloepiphyseal dysplasia congenita Finding site False Bone structure Inferred relationship Some 2
Osteodysplastic dysplasia, type I (disorder) Finding site False Bone structure Inferred relationship Some 2
Greig cephalopolysyndactyly syndrome Finding site False Bone structure Inferred relationship Some 2
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. Finding site False Bone structure Inferred relationship Some 1
Osteogenesis imperfecta, perinatal lethal Finding site False Bone structure Inferred relationship Some 2
Endosteal hyperostoses Finding site False Bone structure Inferred relationship Some 2
I-cell disease Finding site False Bone structure Inferred relationship Some 2
Multiple dislocations with dysplasia Finding site False Bone structure Inferred relationship Some 2
Acromicric dysplasia Finding site False Bone structure Inferred relationship Some 2
Lethal chondrodysplasia with fragmented bone (disorder) Finding site False Bone structure Inferred relationship Some 2
Transient infantile osteopetrosis Finding site True Bone structure Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Finding site False Bone structure Inferred relationship Some 3
Weissenbacher-Zweymuller syndrome Finding site False Bone structure Inferred relationship Some 1
Congenital skeletal dysplasia (disorder) Finding site False Bone structure Inferred relationship Some 2
Osteogenesis imperfecta type IIB presents with normal or thin ribs with some fractures, discontinuous beaded ribs and some under-modeling of the femur. The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism. Finding site False Bone structure Inferred relationship Some 2
Disorganised development of cartilaginous and fibrous components of the skeleton Finding site False Bone structure Inferred relationship Some 2
Dysplasia with defective mineralization Finding site True Bone structure Inferred relationship Some 2
Idiopathic osteolyses Finding site False Bone structure Inferred relationship Some 2
Osteosclerosis - Stanescu type Finding site True Bone structure Inferred relationship Some 2
Osteopetrosis Finding site False Bone structure Inferred relationship Some 2
Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. Finding site False Bone structure Inferred relationship Some 2
Accessory ossification center Finding site False Bone structure Inferred relationship Some 2
Achondrogenesis Finding site False Bone structure Inferred relationship Some 2
Metaphyseal chondrodysplasia, McKusick type Finding site False Bone structure Inferred relationship Some 3
Spondyloepimetaphyseal disorder Finding site False Bone structure Inferred relationship Some 2
Multiple epiphyseal dysplasia Finding site False Bone structure Inferred relationship Some 2
Pseudohypoparathyroidism type I A Finding site False Bone structure Inferred relationship Some 2
Greenberg dysplasia (disorder) Finding site False Bone structure Inferred relationship Some 2
Kyphomelic dysplasia Finding site False Bone structure Inferred relationship Some 2
Mesomelic dysplasia Finding site False Bone structure Inferred relationship Some 2
Cole-Carpenter dysplasia (disorder) Finding site True Bone structure Inferred relationship Some 2
Hyperphosphatasemia with bone disease Finding site False Bone structure Inferred relationship Some 3
Spondyloenchondromatosis (disorder) Finding site False Bone structure Inferred relationship Some 2
Winchester syndrome Finding site False Bone structure Inferred relationship Some 2
GM1 gangliosidosis Finding site False Bone structure Inferred relationship Some 2
Thoracic hydromeningocele Finding site False Bone structure Inferred relationship Some 4
X-linked dominant chondrodysplasia punctata of Happle Finding site False Bone structure Inferred relationship Some 3
Multiple congenital exostosis Finding site False Bone structure Inferred relationship Some 2
Infantile fucosidosis Finding site False Bone structure Inferred relationship Some 2
Lethal Kniest-like syndrome Finding site False Bone structure Inferred relationship Some 2
Salla disease Finding site False Bone structure Inferred relationship Some 2
Astley-Kendall dysplasia (disorder) Finding site False Bone structure Inferred relationship Some 2
Juvenile fucosidosis (disorder) Finding site False Bone structure Inferred relationship Some 2
Pseudo-Hurler polydystrophy Finding site False Bone structure Inferred relationship Some 2
Oculodento-osseous dysplasia Finding site False Bone structure Inferred relationship Some 2
Melnick-Needles syndrome Finding site False Bone structure Inferred relationship Some 2
A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype. Finding site False Bone structure Inferred relationship Some 4
Progressive pseudorheumatoid dysplasia Finding site False Bone structure Inferred relationship Some 2
Wolcott-Rallison dysplasia Finding site False Bone structure Inferred relationship Some 2
Type IV short rib polydactyly syndrome Finding site False Bone structure Inferred relationship Some 2
A rare lysosomal storage disease characterized by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as intellectual disability, developmental delay associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities. Finding site False Bone structure Inferred relationship Some 2
Craniometaphyseal dysplasia - severe type Finding site True Bone structure Inferred relationship Some 3
Mannosidosis, type I Finding site False Bone structure Inferred relationship Some 2
A very rare lysosomal storage disease with characteristics of developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. Finding site False Bone structure Inferred relationship Some 2
Osteogenesis imperfecta type III (disorder) Finding site False Bone structure Inferred relationship Some 2
Metatropic dysplasia (disorder) Finding site False Bone structure Inferred relationship Some 2
Langer mesomelic dysplasia syndrome Finding site False Bone structure Inferred relationship Some 2
Osteogenesis imperfecta, dominant perinatal lethal Finding site False Bone structure Inferred relationship Some 2
Osteoplastic dysplasia (disorder) Finding site False Bone structure Inferred relationship Some 2
Brachyolmia - Maroteaux type (disorder) Finding site False Bone structure Inferred relationship Some 2

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Reference Sets

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

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

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