43719000: Structure of epiphysis (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\Bone part\Structure of region of bone (body structure)\Structure of epiphysis

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

\Structure of bony skeleton\Bony skeleton subdivision\Bone structure\Bone part\Structure of region of bone (body structure)\Structure of epiphysis

\Bone and/or joint structure (body structure)\Bone structure\Bone part\Structure of region of bone (body structure)\Structure of epiphysis

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
Structure of epiphysis	Is a	Structure of region of bone (body structure)	true	Inferred relationship	Some
Structure of epiphysis	Is a	Bone part	false	Inferred relationship	Some
Structure of epiphysis	del af	Entire bone organ (body structure)	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Rhizomelic chondrodysplasia punctata syndrome	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1
Closed reduction of separated epiphysis of femur	Procedure site	False	Structure of epiphysis	Inferred relationship	Some	2
epifysiodese, ikke klassificeret andetsteds	Procedure site - Direct (attribute)	False	Structure of epiphysis	Inferred relationship	Some	1
Separated epiphysis - closed reduction	Procedure site	False	Structure of epiphysis	Inferred relationship	Some	2
Åben reponering af traumatisk læsion på cartilago epiphysialis og intern fiksering, uanset yderligere specifikation	Procedure site - Direct (attribute)	False	Structure of epiphysis	Inferred relationship	Some	1
Anden specificeret fiksering af epifyse	Procedure site - Direct (attribute)	False	Structure of epiphysis	Inferred relationship	Some	1
Arrest of bone growth of ulna	Procedure site - Direct (attribute)	False	Structure of epiphysis	Inferred relationship	Some	2
Operation on epiphysis of bone	Procedure site	True	Structure of epiphysis	Inferred relationship	Some	1
Juvenile epiphysitis	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1
Kongenit syfilitisk epifysit	Finding site	False	Structure of epiphysis	Inferred relationship	Some	1
Open reduction of separation of epiphysis (procedure)	Procedure site - Direct (attribute)	True	Structure of epiphysis	Inferred relationship	Some	1
Åben reponering af traumatisk læsion på cartilago epiphysialis og intern fiksering, uanset yderligere specifikation	Procedure site	False	Structure of epiphysis	Inferred relationship	Some	1
Primær reponering af traumatisk læsion i cartilago epiphysialis, ikke nærmere specificeret	Procedure site	False	Structure of epiphysis	Inferred relationship	Some	1
Excision of epiphyseal bar with autogenous soft tissue graft (procedure)	Procedure site - Direct (attribute)	False	Structure of epiphysis	Inferred relationship	Some	1
Excision of epiphyseal bar (procedure)	Procedure site - Direct (attribute)	True	Structure of epiphysis	Inferred relationship	Some	1
Achondroplasia	Finding site	False	Structure of epiphysis	Inferred relationship	Some	1
lukket reponering af læsion på cartilago epiphysialis og træk, uanset yderligere specifikation	Procedure site - Direct (attribute)	False	Structure of epiphysis	Inferred relationship	Some	1
Åben reponering af traumatisk læsion i cartilago epiphysialis, ikke klassificeret andetsteds	Procedure site - Direct (attribute)	False	Structure of epiphysis	Inferred relationship	Some	1
Lukket reponering af traumatisk læsion i cartilago epiphysialis, ikke klassificeret andetsteds	Procedure site - Direct (attribute)	False	Structure of epiphysis	Inferred relationship	Some	1
Åben reponering af traumatisk læsion på cartilago epiphysialis og intern fiksering, uanset yderligere specifikation	Procedure site - Direct (attribute)	False	Structure of epiphysis	Inferred relationship	Some	1
Lukket reponering af traumatisk læsion på cartilago epiphysialis og intern fiksering, uanset yderligere specifikation	Procedure site - Direct (attribute)	False	Structure of epiphysis	Inferred relationship	Some	1
Åben reponering af traumatisk læsion på cartilago epiphysialis og træk, uanset yderligere specifikation	Procedure site - Direct (attribute)	False	Structure of epiphysis	Inferred relationship	Some	1
Separated epiphysis - closed reduction	Procedure site - Direct (attribute)	False	Structure of epiphysis	Inferred relationship	Some	1
Open reduction of separation of epiphysis (procedure)	Procedure site - Direct (attribute)	False	Structure of epiphysis	Inferred relationship	Some	1
Excision of epiphyseal bar (procedure)	Procedure site - Direct (attribute)	False	Structure of epiphysis	Inferred relationship	Some	1
Excision of epiphyseal bar with autogenous soft tissue graft (procedure)	Procedure site - Direct (attribute)	True	Structure of epiphysis	Inferred relationship	Some	1
Severe achondrolasia with developmental delay and acanthosis nigricans	Finding site	False	Structure of epiphysis	Inferred relationship	Some	6
Severe achondrolasia with developmental delay and acanthosis nigricans	Finding site	False	Structure of epiphysis	Inferred relationship	Some	2
Achondroplasia	Finding site	False	Structure of epiphysis	Inferred relationship	Some	3
Multiple epiphyseal dysplasia	Finding site	False	Structure of epiphysis	Inferred relationship	Some	3
Wolcott-Rallison dysplasia (disorder)	Finding site	False	Structure of epiphysis	Inferred relationship	Some	3
Multipel epifyseal dysplasia tarda, type 3a	Finding site	False	Structure of epiphysis	Inferred relationship	Some	3
Temporary fixation epiphysis	Procedure site - Direct (attribute)	False	Structure of epiphysis	Inferred relationship	Some	3
Pelvis juvenile osteochondropathy	Finding site	True	Structure of epiphysis	Inferred relationship	Some	3
Juvenile osteochondritis of the hip and pelvis	Finding site	True	Structure of epiphysis	Inferred relationship	Some	3
Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.	Finding site	False	Structure of epiphysis	Inferred relationship	Some	4
Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.	Finding site	False	Structure of epiphysis	Inferred relationship	Some	4
Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.	Finding site	False	Structure of epiphysis	Inferred relationship	Some	4
A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slightly elevated. Oligodontia has been rarely associated.	Finding site	False	Structure of epiphysis	Inferred relationship	Some	4
Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1
Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1
Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1
A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and genu valgum. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and pectus excavatum.	Finding site	False	Structure of epiphysis	Inferred relationship	Some	2
Multiple epiphyseal dysplasia Beighton type (disorder)	Finding site	False	Structure of epiphysis	Inferred relationship	Some	2
A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.	Finding site	False	Structure of epiphysis	Inferred relationship	Some	3
A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.	Finding site	False	Structure of epiphysis	Inferred relationship	Some	4
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Finding site	False	Structure of epiphysis	Inferred relationship	Some	5
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.	Finding site	False	Structure of epiphysis	Inferred relationship	Some	1
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.	Finding site	True	Structure of epiphysis	Inferred relationship	Some	2
Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (including varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1
Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1
Epiphyseal dysplasia	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.	Finding site	True	Structure of epiphysis	Inferred relationship	Some	2
Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (especially the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (including mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1
A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and genu valgum. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and pectus excavatum.	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1
Multiple epiphyseal dysplasia Beighton type (disorder)	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1
A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slightly elevated. Oligodontia has been rarely associated.	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1
A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.	Finding site	True	Structure of epiphysis	Inferred relationship	Some	2
A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.	Finding site	True	Structure of epiphysis	Inferred relationship	Some	2
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Finding site	False	Structure of epiphysis	Inferred relationship	Some	2
Juvenile osteochondrosis of capitulum of humerus (disorder)	Finding site	True	Structure of epiphysis	Inferred relationship	Some	3
Hip juvenile osteochondropathy	Finding site	True	Structure of epiphysis	Inferred relationship	Some	3
Dysplasia epiphysealis hemimelica	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1
Partial epiphyseal arrest	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1
Epiphyseal arrest	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1
Premature epiphyseal closure	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1
Delayed epiphyseal closure	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1
An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.	Finding site	False	Structure of epiphysis	Inferred relationship	Some	3
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).	Finding site	True	Structure of epiphysis	Inferred relationship	Some	4
Achondroplasia	Finding site	True	Structure of epiphysis	Inferred relationship	Some	2
Rhizomelic chondrodysplasia punctata type 1	Finding site	True	Structure of epiphysis	Inferred relationship	Some	2
Rhizomelic chondrodysplasia punctata type 2	Finding site	True	Structure of epiphysis	Inferred relationship	Some	2
Rhizomelic chondrodysplasia punctata type 3	Finding site	True	Structure of epiphysis	Inferred relationship	Some	2
Juvenile osteochondrosis of lower ulna	Finding site	True	Structure of epiphysis	Inferred relationship	Some	2
Juvenile osteochondrosis of carpal lunate	Finding site	True	Structure of epiphysis	Inferred relationship	Some	2
Juvenile osteochondrosis of hand	Finding site	True	Structure of epiphysis	Inferred relationship	Some	3
Juvenile osteochondrosis of upper extremity	Finding site	True	Structure of epiphysis	Inferred relationship	Some	2
Epiphyseal arrest due to kidney disease (disorder)	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1
Epiphyseal arrest due to disorder of endocrine system	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1
Post-traumatic epiphyseal arrest	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed.	Finding site	True	Structure of epiphysis	Inferred relationship	Some	2
Epiphyseal closure	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1
Small epiphysis	Finding site	True	Structure of epiphysis	Inferred relationship	Some	1

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Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
72894017	Epiphysis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
493663015	Structure of epiphysis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
780765014	Structure of epiphysis (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3958881000005117	struktur af epifyse	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)