48566001: Bone structure of extremity (body structure)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\...

\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).\Structure of bone organ\Bone structure\Regional bone structure\Bone structure of extremity

\Body system structure\Structure of musculoskeletal system (body structure)\...

\Structure of regional musculoskeletal system (body structure)\Regional bone structure\Bone structure of extremity

\Skeletal system structure\Structure of bony skeleton\Bony skeleton subdivision\Bone structure\Regional bone structure\Bone structure of extremity
\Skeletal system structure\Bone and/or joint structure (body structure)\Bone and/or joint structure of limb (body structure)\Bone structure of extremity
\Skeletal system structure\Bone and/or joint structure (body structure)\Bone structure\Regional bone structure\Bone structure of extremity

\Body region structure\Structure of half of body lateral to midsagittal plane (body structure)\Limb structure\Bone and/or joint structure of limb (body structure)\Bone structure of extremity
\Body region structure\Structure of regional musculoskeletal system (body structure)\Regional bone structure\Bone structure of extremity
\Body region structure\Body part structure\Limb structure\Bone and/or joint structure of limb (body structure)\Bone structure of extremity

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Bone structure of extremity	Is a	Regional bone structure	true	Inferred relationship	Some
Bone structure of extremity	Is a	Bone and/or joint structure of limb (body structure)	true	Inferred relationship	Some
Bone structure of extremity	del af	Entire bony skeleton	false	Additional relationship	Some
Bone structure of extremity	del af	Entire limb	false	Additional relationship	Some
Bone structure of extremity	Laterality	Side	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Entire bone of extremity	Is a	True	Bone structure of extremity	Inferred relationship	Some
Phalanx structure	Is a	False	Bone structure of extremity	Inferred relationship	Some
Bone structure of lower limb	Is a	True	Bone structure of extremity	Inferred relationship	Some
Bone structure of upper limb	Is a	False	Bone structure of extremity	Inferred relationship	Some
Mandibuloacral dysostosis	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
Adamantinoma of long bone	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
Procedure on bone of extremity	Procedure site	True	Bone structure of extremity	Inferred relationship	Some	1
Apply Thomas splint traction	Procedure site	False	Bone structure of extremity	Inferred relationship	Some	1
tuberkulose i ekstremitetsknogler – tuberkuløs daktylit	Finding site	False	Bone structure of extremity	Inferred relationship	Some
Tuberculosis of limb bones	Finding site	False	Bone structure of extremity	Inferred relationship	Some
Tuberculosis of multiple limb bones	Finding site	False	Bone structure of extremity	Inferred relationship	Some
Fractures involving multiple regions of upper limb(s) with lower limb(s) (disorder)	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
Tuberkulose i uspecificeret arm- eller benknogle	Finding site	False	Bone structure of extremity	Inferred relationship	Some
Tuberkulose i andre arm- eller benknogler	Finding site	False	Bone structure of extremity	Inferred relationship	Some
Tuberkulose i arm- eller benknogler, ikke nærmere specificeret	Finding site	False	Bone structure of extremity	Inferred relationship	Some
Bone structure of upper limb (body structure)	Is a	True	Bone structure of extremity	Inferred relationship	Some
Tuberculosis of bones of shoulder region (disorder)	Finding site	False	Bone structure of extremity	Inferred relationship	Some
Closed fractures involving multiple regions upper with lower limb	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
Open fracture involving multiple regions upper with lower limbs	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
Second metapodal of equine limb	Is a	False	Bone structure of extremity	Inferred relationship	Some
Proximal sesamoid of equine limb	Is a	False	Bone structure of extremity	Inferred relationship	Some
Third metapodal of equine limb	Is a	False	Bone structure of extremity	Inferred relationship	Some
Sequestrectomy of tarsals or metatarsals	Procedure site - Direct (attribute)	False	Bone structure of extremity	Inferred relationship	Some	1
Closed fracture dislocation digit (disorder)	Finding site	False	Bone structure of extremity	Inferred relationship	Some	2
Closed fracture dislocation of distal interphalangeal joint	Finding site	False	Bone structure of extremity	Inferred relationship	Some	2
Closed fracture dislocation of proximal interphalangeal joint	Finding site	False	Bone structure of extremity	Inferred relationship	Some	2
Closed fracture dislocation multiple digits	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
Open fracture dislocation digit	Finding site	False	Bone structure of extremity	Inferred relationship	Some	2
Open fracture dislocation multiple digits	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
Open fracture subluxation digit	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
Open fracture subluxation of proximal interphalangeal joint	Finding site	False	Bone structure of extremity	Inferred relationship	Some	2
Open fracture subluxation of multiple digits (disorder)	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
lukket fraktur af digitus med luksation, uspecificeret	Finding site	False	Bone structure of extremity	Inferred relationship	Some	2
lukket fraktur med luksation af interfalangealt led, uspecificeret	Finding site	False	Bone structure of extremity	Inferred relationship	Some	2
åben fraktur med luksation af finger, uspecificeret	Finding site	False	Bone structure of extremity	Inferred relationship	Some	2
åben fraktur med luksation af interfalangealt led, uspecificeret	Finding site	False	Bone structure of extremity	Inferred relationship	Some	2
åben fraktursubluksation af finger, uspecificeret	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
Apply Thomas splint traction	Procedure site - Direct (attribute)	False	Bone structure of extremity	Inferred relationship	Some	1
Open fracture dislocation of proximal interphalangeal joint	Finding site	False	Bone structure of extremity	Inferred relationship	Some	3
Open fracture involving multiple regions upper with lower limbs	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
lukket fraktur med luksation af interfalangealt led, uspecificeret	Finding site	False	Bone structure of extremity	Inferred relationship	Some	2
åben fraktur med luksation af finger, uspecificeret	Finding site	False	Bone structure of extremity	Inferred relationship	Some	2
åben fraktur med luksation af interfalangealt led, uspecificeret	Finding site	False	Bone structure of extremity	Inferred relationship	Some	2
Closed fractures involving multiple regions upper with lower limb	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
Apply Thomas splint traction	Procedure site - Direct (attribute)	True	Bone structure of extremity	Inferred relationship	Some	1
Fractures involving multiple regions of upper limb(s) with lower limb(s) (disorder)	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
lukket fraktur af digitus med luksation, uspecificeret	Finding site	False	Bone structure of extremity	Inferred relationship	Some	2
Open fracture subluxation of multiple digits (disorder)	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
Open fracture subluxation of proximal interphalangeal joint	Finding site	False	Bone structure of extremity	Inferred relationship	Some	2
Mandibuloacral dysostosis	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
Open fracture dislocation multiple digits	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
Closed fracture dislocation of distal interphalangeal joint	Finding site	False	Bone structure of extremity	Inferred relationship	Some	2
Closed fracture dislocation multiple digits	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
Closed fracture dislocation of proximal interphalangeal joint	Finding site	False	Bone structure of extremity	Inferred relationship	Some	2
Sequestrectomy of tarsals or metatarsals	Procedure site - Direct (attribute)	True	Bone structure of extremity	Inferred relationship	Some	1
Open fracture subluxation digit	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
åben fraktursubluksation af finger, uspecificeret	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
Closed fracture dislocation digit (disorder)	Finding site	False	Bone structure of extremity	Inferred relationship	Some	2
Open fracture dislocation digit	Finding site	False	Bone structure of extremity	Inferred relationship	Some	2
Langer-Giedion syndrome	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
Langer-Giedion syndrome	Finding site	True	Bone structure of extremity	Inferred relationship	Some	1
Apply Thomas splint traction	Procedure site - Direct (attribute)	False	Bone structure of extremity	Inferred relationship	Some	1
Phalanx structure	Is a	True	Bone structure of extremity	Inferred relationship	Some
Lengthening of bone of extremity (procedure)	Procedure site - Direct (attribute)	True	Bone structure of extremity	Inferred relationship	Some	1
Shortening of bone of extremity (procedure)	Procedure site - Direct (attribute)	True	Bone structure of extremity	Inferred relationship	Some	1
Langer-Giedion syndrome	Finding site	False	Bone structure of extremity	Inferred relationship	Some	2
Radionuclide single phase study of bone of extremity	Procedure site - Direct (attribute)	True	Bone structure of extremity	Inferred relationship	Some	1
Radionuclide two-phase study of bone of extremity (procedure)	Procedure site - Direct (attribute)	True	Bone structure of extremity	Inferred relationship	Some	1
Tuberculosis of limb bones	Finding site	True	Bone structure of extremity	Inferred relationship	Some	2
Tuberculosis of multiple limb bones	Finding site	True	Bone structure of extremity	Inferred relationship	Some	2
A rare congenital acrofacial dysostosis characterized by mild intrauterine growth retardation, postnatal short stature, microcephaly, intellectual disability, moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning, microretrognathia, and malar hypoplasia), and mild pre- and postaxial limb hypoplasia with generalized brachydactyly, mild interdigital webbing, single transverse palmar creases and clinodactyly. Reported facial features include high forehead, widow's peak, downslanted palpebral fissures, sparse lateral eyebrows, and small or dysplastic ears. Variably associated features include frequent caries, preauricular fistulae, inguinal hernia, spina bifida occulta, and cryptorchidism and hypospadias in males.	Finding site	False	Bone structure of extremity	Inferred relationship	Some	3
A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.	Finding site	False	Bone structure of extremity	Inferred relationship	Some	3
Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.	Finding site	False	Bone structure of extremity	Inferred relationship	Some	3
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	Some	3
Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.	Finding site	False	Bone structure of extremity	Inferred relationship	Some	4
A rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.	Finding site	False	Bone structure of extremity	Inferred relationship	Some	2
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome.	Finding site	True	Bone structure of extremity	Inferred relationship	Some	3
A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.	Finding site	True	Bone structure of extremity	Inferred relationship	Some	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 characterized 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	False	Bone structure of extremity	Inferred relationship	Some	5
A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.	Finding site	False	Bone structure of extremity	Inferred relationship	Some	5
A rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.	Finding site	False	Bone structure of extremity	Inferred relationship	Some	3
Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.	Finding site	False	Bone structure of extremity	Inferred relationship	Some	7
Ballard syndrome has characteristics of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. The syndrome has been described in 12 members from four generations of one family. Transmission appears to be autosomal dominant.	Finding site	True	Bone structure of extremity	Inferred relationship	Some	2
Ballard syndrome has characteristics of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. The syndrome has been described in 12 members from four generations of one family. Transmission appears to be autosomal dominant.	Finding site	False	Bone structure of extremity	Inferred relationship	Some	3
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.	Finding site	False	Bone structure of extremity	Inferred relationship	Some	6
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	False	Bone structure of extremity	Inferred relationship	Some	2
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.	Finding site	False	Bone structure of extremity	Inferred relationship	Some	3
Primary chondrosarcoma of bone of limb (disorder)	Finding site	True	Bone structure of extremity	Inferred relationship	Some	1
Primary osteosarcoma of bone of limb (disorder)	Finding site	True	Bone structure of extremity	Inferred relationship	Some	1
Primary Ewing sarcoma of bone of limb (disorder)	Finding site	True	Bone structure of extremity	Inferred relationship	Some	1
Benign osteogenic neoplasm of bone of limb (disorder)	Finding site	True	Bone structure of extremity	Inferred relationship	Some	1
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.	Finding site	True	Bone structure of extremity	Inferred relationship	Some	1
Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.	Finding site	True	Bone structure of extremity	Inferred relationship	Some	2
Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.	Finding site	True	Bone structure of extremity	Inferred relationship	Some	1
Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.	Finding site	True	Bone structure of extremity	Inferred relationship	Some	1
Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).	Finding site	False	Bone structure of extremity	Inferred relationship	Some	1
Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).	Finding site	True	Bone structure of extremity	Inferred relationship	Some	2
A rare genetic congenital limb malformation disorder with characteristics of hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.	Finding site	True	Bone structure of extremity	Inferred relationship	Some	1
Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.	Finding site	True	Bone structure of extremity	Inferred relationship	Some	2
Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterised by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.	Finding site	True	Bone structure of extremity	Inferred relationship	Some	2

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Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

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

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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
4452201000005110	knoglestruktur i ekstremitet	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)