237513002: Congenital anomaly of bone and joint (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint

\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

355955014 Congenital anomaly of bone and joint en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626253013 Congenital anomaly of bone and joint (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1518951000005110 Kongenit anomali i knogle og led da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of bone and joint	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Some
Congenital anomaly of bone and joint	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of bone and joint	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Finding site	Joint structure	true	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Finding site	Bone structure	true	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Congenital anomaly of bone and joint	Is a	Congenital anomaly of joint	true	Inferred relationship	Some
Congenital anomaly of bone and joint	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital anomaly of bone and joint	Associated morphology	dysgenese	false	Inferred relationship	Some	3
Congenital anomaly of bone and joint	Finding site	Joint structure	false	Inferred relationship	Some	3
Congenital anomaly of bone and joint	Occurrence	Congenital	false	Inferred relationship	Some	4
Congenital anomaly of bone and joint	Associated morphology	dysgenese	false	Inferred relationship	Some	4
Congenital anomaly of bone and joint	Finding site	Bone structure	false	Inferred relationship	Some	4
Congenital anomaly of bone and joint	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Congenital anomaly of bone and joint	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Imperfect fusion of skull	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Trigonocephaly	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Hypermobile Ehlers-Danlos syndrome (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Corneafragilitet, keratoglobus, blå sklera og hypermobile led	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Skafocefali	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Acrocephaly	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital hip dysplasia	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Proximal femoral focal deficiency	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Craniosynostosis syndrome	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital fusion of sacroiliac joint (disorder)	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital absence of patella	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Bifid patella	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Rudimentær patella	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital abnormal fusion of femur	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital dislocation of radial head (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Internasal dysostosis	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Nonsyndromic premature fusion of multiple sutures.	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Nonsyndromic premature fusion of a single suture.	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Fronto-malar faciosynostosis	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Interfrontal craniofaciosynostosis	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Fibroblast growth factor receptor 3-related craniosynostosis (disorder)	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Interparietal craniosynostosis (disorder)	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Acrocephaly	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Bicoronal craniosynostosis	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Antley-Bixler syndrome	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Baller-Gerold syndrome	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Parieto-occipital craniosynostosis	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Spheno-fronto-parietal craniofaciosynostosis	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Cloverleaf skull syndrome (disorder)	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Unicoronal craniosynostosis	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Bifid mandibular condyle	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Trigonocephaly	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital fusion of sacroiliac joint (disorder)	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital hip dysplasia	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
A congenital differentiation of the fifth lumbar vertebra (L5) such that it takes on characteristics of a sacral vertebra. Though the sacralization is usually incomplete and limited to one side, it can be partial or complete on one or both sides of the sacrum	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Lumbarized first sacral vertebra	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
An abnormally high skull with shortness of anterior-posterior dimension. A type of craniosynostosis in which there is premature closure of the coronal suture resulting in an abnormally short anteroposterior diameter of the cranium.	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported.	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus.	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies.	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
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.	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital coxa valga	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital coxa vara	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Craniosynostosis fibular aplasia syndrome (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
An extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
A rare genetic syndrome with limb malformations as a major feature characterized by brachydactyly and distal symphalangism, pes cavus, scoliosis, and normal stature. There have been no further descriptions in the literature since 1978.	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital absence of right mandibular condyle	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital absence of left mandibular condyle	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
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.	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
A rare genetic congenital limb malformation disorder with characteristics of bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Stickler syndrome	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis.	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13.	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Lunate-triquetrum synostosis	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Madelung's deformity	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
A rare genetic lethal primary bone dysplasia with characteristics of dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophthalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis and bent long bones (particularly involving the femora). Caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated.	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Genu recurvatum and long leg bone bowing	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
A rare frontonasal dysplasia malformation syndrome with characteristics of an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts and bilateral symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991.	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Triphalangeal thumb and dislocation of patella syndrome (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Boomerang dysplasia	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Long narrow head	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Occipital encephalocele	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
A syndromic craniosynostosis with a wide range of clinical findings even within a single family. Most have coronal synostosis however synostosis of other sutures, all sutures, macrocephaly without craniosynostosis, or a normal skull may be observed. Bilateral coronal synostosis usually results in brachycephaly with temporal bossing and facial symmetry. Craniofacial findings include widely spaced eyes, ptosis or proptosis, strabismus, and high arched palate or cleft lip/palate. Over 70% of patients have some form of hearing loss. Additional extracranial manifestations include otitis media, brachydactyly, broad toes, broad thumbs, clinodactyly, developmental delay and intellectual disability. Caused by mutation in the FGFR3 gene (4p16.3), encoding fibroblast growth factor receptor 3, which is required for normal skeleton development. Inheritance is autosomal dominant.	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Distal radioulnar synostosis	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Macular coloboma-cleft palate-hallux valgus syndrome is characterized by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Saethre-Chotzen syndrome	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital anomaly of exoccipital bone	Is a	False	Congenital anomaly of bone and joint	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of the triad: congenital bilateral symmetrical subtotal external auditory canal atresia, bilateral vertical talus and increased interocular distance.	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Scaphoid-lunate synostosis	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Congenital glenoid dysplasia	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, moderate to severe intellectual disability, dysmorphic features including craniosynostosis, micro-/retrognathia, cleft palate, and brachydactyly, and short stature. Seizures, skeletal anomalies (such as arthrogryposis, gracile bones, and pathological fractures), and renal abnormalities have also been described. Cerebral MRI may show periventricular white matter changes and ventriculomegaly.	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal.	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Aplasia of head of femur	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some
Aplasia of lateral condyle of humerus	Is a	True	Congenital anomaly of bone and joint	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
355955014	Congenital anomaly of bone and joint	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626253013	Congenital anomaly of bone and joint (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1518951000005110	Kongenit anomali i knogle og led	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)