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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
355955014 Congenital anomaly of bone and joint en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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

68 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 Existential restriction modifier (core metadata concept)
Congenital anomaly of bone and joint Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of bone and joint Finding site Structure of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of bone and joint Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of bone and joint Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of bone and joint Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of bone and joint Finding site Joint structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of bone and joint Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of bone and joint Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of bone and joint Is a Congenital anomaly of joint true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of bone and joint Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of bone and joint Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of bone and joint Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of bone and joint Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of bone and joint Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of bone and joint Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of bone and joint Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of bone and joint Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of bone and joint Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital anomaly of bone and joint Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital anomaly of bone and joint Finding site Joint structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital anomaly of bone and joint Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital anomaly of bone and joint Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital anomaly of bone and joint Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital anomaly of bone and joint Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of bone and joint Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of bone and joint Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of bone and joint Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of bone and joint Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of bone and joint Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Imperfect fusion of skull Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Trigonocephaly Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome, type 3 Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Scaphycephaly Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephaly Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hip dysplasia (disorder) Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Proximal femoral focal deficiency Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis syndrome Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fusion of sacroiliac joint Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of patella Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Bifid patella Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Rudimentary patella Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal fusion of femur Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Congenital dislocation of radial head (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Internasal dysostosis (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Complex craniosynostosis Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Simple craniosynostosis (disorder) Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Fronto-malar faciosynostosis (disorder) Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Interfrontal craniofaciosynostosis (disorder) Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Fibroblast growth factor receptor 3-related craniosynostosis (disorder) Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Interparietal craniosynostosis (disorder) Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephaly Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Bicoronal craniosynostosis Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Baller-Gerold syndrome Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Parieto-occipital craniosynostosis Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Spheno-fronto-parietal craniofaciosynostosis Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Cloverleaf skull syndrome Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Unicoronal craniosynostosis Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Bifid mandibular condyle Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Trigonocephaly Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fusion of sacroiliac joint Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hip dysplasia (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Sacralized fifth lumbar vertebra Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Lumbarised first sacral vertebra Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Acrobrachycephaly Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Cardiocranial syndrome Pfeiffer type (disorder) Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Craniofacial dyssynostosis syndrome (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Capra DeMarco syndrome Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Hip dysplasia Beukes type (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Congenital coxa valga Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Congenital coxa vara Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis fibular aplasia syndrome (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Brachydactyly and distal symphalangism syndrome (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of right mandibular condyle Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of left mandibular condyle Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Hallux varus, preaxial polysyndactyly syndrome (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Freeman-Sheldon syndrome Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome musculocontractural type (disorder) Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Lunate-triquetrum synostosis Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Madelung's deformity Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Genu recurvatum and long leg bone bowing (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Craniorhiny (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Triphalangeal thumb and dislocation of patella syndrome Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Boomerang dysplasia Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Long narrow head (disorder) Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Occipital encephalocele Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Muenke syndrome Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Distal radioulnar synostosis (disorder) Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Macular coloboma-cleft palate-hallux valgus syndrome is characterised 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 Existential restriction modifier (core metadata concept)
Craniosynostosis Philadelphia type (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Saethre-Chotzen syndrome Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of exoccipital bone Is a False Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Scaphoid-lunate synostosis Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Congenital glenoid dysplasia Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Familial scaphocephaly syndrome McGillivray type (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis, microretrognathia, severe intellectual disability syndrome (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of head of femur (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of lateral condyle of humerus (disorder) Is a True Congenital anomaly of bone and joint Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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