FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

237513002: Congenital anomaly of bone and joint (disorder)

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
6042171000241116 anomalie osseuse et articulaire congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6042181000241119 anomalie congénitale d'un os et d'une articulation fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

75 descendants. Search Descendants:

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 anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of bone and joint Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of bone and joint Associated morphology anomalie congénitale 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 anomalie congénitale false Inferred relationship Some 2
Congenital anomaly of bone and joint Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of bone and joint Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital anomaly of bone and joint Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of bone and joint Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital anomaly of bone and joint Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of bone and joint Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of bone and joint Associated morphology anomalie congénitale 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 anomalie du développement 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 anomalie du développement 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
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Is a False Congenital anomaly of bone and joint Inferred relationship Some
Scaphycephaly 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 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
Rudimentary 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 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 (disorder) Is a False Congenital anomaly of bone and joint Inferred relationship Some
Cloverleaf skull syndrome 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 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
Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by 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 rare congenital, distal arthrogryposis syndrome characterised by microstomia, whistling-face appearance, chin with V- or H- shaped crease, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It 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
Lethal occipital encephalocele-skeletal dysplasia syndrome is 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. 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 (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Some
FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by 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 hematopoiesis 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 characterised by 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
Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. 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 characterized by 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
A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987. 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
Hypoplasia of cementum Is a True Congenital anomaly of bone and joint Inferred relationship Some
Congenital hypoplasia of bone of head and neck of femur (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Some
Congenital hypoplasia of glenoid cavity (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Some
Abnormally short condyloid process of mandible (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Some
Congenital dysplasia of head of femur (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Some

This concept is not in any reference sets

Back to Start