95463009: Congenital anomaly of joint (disorder)

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

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

\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint

Status: current, 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
Congenital anomaly of joint	Is a	Congenital anomaly of musculoskeletal system	true	Inferred relationship	Some
Congenital anomaly of joint	Is a	Arthropathy	false	Inferred relationship	Some
Congenital anomaly of joint	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of joint	Finding site	Joint structure	true	Inferred relationship	Some	1
Congenital anomaly of joint	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of joint	Is a	Arthropathy (disorder)	true	Inferred relationship	Some
Congenital anomaly of joint	Is a	Lesion of joint	false	Inferred relationship	Some
Congenital anomaly of joint	Finding site	Joint structure	false	Inferred relationship	Some	1
Congenital anomaly of joint	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of joint	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of joint	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital anomaly of joint	Finding site	Joint structure	false	Inferred relationship	Some	2
Congenital anomaly of joint	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of joint	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of joint	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
pollice a scatto congenito	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Lunate-triquetrum synostosis	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Scaphoid-lunate synostosis	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Proximal interphalangeal joint symphalangism	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Distal interphalangeal joint symphalangism	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Anterior perimaxillary faciosynostosis	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Posterior perimaxillary faciosynostosis	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Internasal dysostosis	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Arthrogryposis	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Gouty tophus of bursa	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Gouty tophus of tendon	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital spondylolisthesis	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Gouty tophus of pinna (disorder)	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital generalized flexion contractures of lower limb joints	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital deformity of sacroiliac joint (disorder)	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Clutton's joints	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital cubitus varus	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital dislocation of glenohumeral joint	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Imperfect fusion of skull	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital deformity of hip joint	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital deformity of ankle joint	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Trigonocephaly	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Hypermobile Ehlers-Danlos syndrome (disorder)	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Radioulnar synostosis	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Ochronotic arthritis	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital absence of foot	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Scaphycephaly	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Acrocephaly	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Gouty arthritis	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital hallux valgus	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Craniosynostosis syndrome	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital deformity of knee joint	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Multiple synostosis syndrome	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital cubitus valgus	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Stickler syndrome	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital hallux varus	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital spondylolysis of lumbosacral region	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
chondrodystrophie malacique	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital hammer toe	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Bertolotti's syndrome	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Cervical rib syndrome	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital dislocation of radial head	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Chronic tophaceous gout of hand (disorder)	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Multiple congenital articular rigidities	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital deformity of lumbosacral joint	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Proximal femoral focal deficiency	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital fusion of sacroiliac joint	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Astragaloscaphoid synostosis	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital spondylolisthesis	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital deformity of sacroiliac joint (disorder)	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital ball and socket ankle	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Cervical malformation - malarticulation	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital spondylolysis of lumbosacral region	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Bertolotti's syndrome	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital hallux varus	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital anomaly of bone and joint	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital instability of hip joint	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital dislocation of hip	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital abduction contracture of hip	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital flexion contracture of hip	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital generalized flexion contractures of lower limb joints	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Craniosynostosis syndrome	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital dislocation of elbow (disorder)	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital dislocation of knee	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
ménisque discoïde congénital	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Nonsyndromic premature fusion of a single suture.	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Nonsyndromic premature fusion of multiple sutures.	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Imperfect fusion of skull	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital ball and socket ankle	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital neuropathy with arthrogryposis multiplex congenita	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital hallux varus	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Inherited arthrogryposis	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Tarsal coalitions	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital abduction contracture of hip	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Amyoplasie, kongenitale	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital lumbosacral fusion (disorder)	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Symphalangism	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital genu valgum	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital mallet toe (disorder)	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Occipitalization of atlas (disorder)	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital wide symphysis pubis (disorder)	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990.	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital hallux valgus of left great toe (disorder)	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital hallux valgus of right great toe (disorder)	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with active extension impossible) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
A rare genetic disease characterized by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983.	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital ankylosis of elbow	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Reunion Island Larsen-like syndrome	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Developmental dislocation of ankle and/or foot (disorder)	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
luxation développementale d'une articulation de la région de l'épaule	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Lethal multiple pterygium syndrome	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital subluxation of carpus	Is a	False	Congenital anomaly of joint	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
158122016	Congenital anomaly of joint	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
158126018	Congenital joint malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
158127010	Congenital articular malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
839622014	Congenital anomaly of joint (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4730411000241112	anomalie congénitale d'une articulation	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module