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250087009: Joint deformity (finding)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
373012013 Joint deformity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
640593011 Joint deformity (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5060771000241111 déformation d'une articulation fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

324 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Joint deformity Is a Finding of form of joint false Inferred relationship Some
Joint deformity Finding site Joint structure true Inferred relationship Some 1
Joint deformity Interprets Form of joint false Inferred relationship Some 1
Joint deformity Is a Joint finding true Inferred relationship Some
Joint deformity Is a Deformity (finding) true Inferred relationship Some
Joint deformity Associated morphology Deformity true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Multiple joint deformity Is a True Joint deformity Inferred relationship Some
On examination - joint abnormal Associated finding False Joint deformity Inferred relationship Some
On examination - multiple joint abnormal Associated finding False Joint deformity Inferred relationship Some
On examination - elbow joint abnormal Associated finding False Joint deformity Inferred relationship Some
On examination - wrist joint abnormal Associated finding False Joint deformity Inferred relationship Some
On examination - hand joint abnormal Associated finding False Joint deformity Inferred relationship Some
à l'examen : articulation du doigt anormale Associated finding False Joint deformity Inferred relationship Some
On examination - hip joint abnormal Associated finding False Joint deformity Inferred relationship Some
On examination - knee joint abnormal Associated finding False Joint deformity Inferred relationship Some
On examination - locked knee Associated finding False Joint deformity Inferred relationship Some
On examination - ankle joint abnormal Associated finding False Joint deformity Inferred relationship Some
On examination - foot joint abnormal Associated finding False Joint deformity Inferred relationship Some
On examination - toe joint abnormal Associated finding False Joint deformity Inferred relationship Some
On examination - neck joint abnormal Associated finding False Joint deformity Inferred relationship Some
On examination - locked joint Associated finding False Joint deformity Inferred relationship Some
On examination - fixed joint deformity Associated finding False Joint deformity Inferred relationship Some
à l'examen : articulation de l'épaule anormale Associated finding False Joint deformity Inferred relationship Some
On examination - joint abnormal NOS Associated finding False Joint deformity Inferred relationship Some
On examination - fixed joint deformity Is a False Joint deformity Inferred relationship Some
Rachitic rosary Is a True Joint deformity Inferred relationship Some
Congenital deformity of sacroiliac joint (disorder) Is a True Joint deformity Inferred relationship Some
Extension deformity of finger Is a True Joint deformity Inferred relationship Some
Flexion deformity Is a True Joint deformity Inferred relationship Some
Acquired deformity of joint of upper limb Is a True Joint deformity Inferred relationship Some
Acquired deformity of joint of lower limb Is a True Joint deformity Inferred relationship Some
Congenital deformity of lumbosacral joint Is a True Joint deformity Inferred relationship Some
Deformity of joint of thoracic spine Is a True Joint deformity Inferred relationship Some
Deformity of hip joint Is a True Joint deformity Inferred relationship Some
Deformity of knee joint Is a True Joint deformity Inferred relationship Some
Wrist joint deformity Is a True Joint deformity Inferred relationship Some
Ankle joint deformity Is a True Joint deformity Inferred relationship Some
Elbow joint deformity Is a True Joint deformity Inferred relationship Some
Thumb joint deformity Is a True Joint deformity Inferred relationship Some
Toe joint deformity Is a True Joint deformity Inferred relationship Some
Scorbutic rosary (disorder) Is a True Joint deformity Inferred relationship Some
Lethal multiple pterygium syndrome Is a True Joint deformity Inferred relationship Some
Overriding fingers Is a True Joint deformity Inferred relationship Some
Deformity of mandibular condyle (disorder) Is a True Joint deformity Inferred relationship Some
Deformity of fibrous joint (finding) Is a True Joint deformity Inferred relationship Some
Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands. Is a False Joint deformity Inferred relationship Some
A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype. Is a True Joint deformity Inferred relationship Some
A rare genetic disease characterised by infantile or childhood onset of abnormal growth of hyalinised fibrous tissue, giving rise to multiple cutaneous nodules and/or pearly papules predominantly affecting the scalp, ears, neck, face, hands, and feet. Involvement of other organs results in gingival hyperplasia, osteolytic bone lesions, and joint contractures. Some patients exhibit visceral involvement with intractable diarrhoea, increased susceptibility to infections, and severe failure to thrive. Is a True Joint deformity Inferred relationship Some
Contracture of joint of finger of bilateral hands due to scar (disorder) Is a True Joint deformity Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others. Is a True Joint deformity Inferred relationship Some
Dupuytren's contracture of finger (disorder) Is a True Joint deformity Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases. Is a False Joint deformity Inferred relationship Some
Rotational deformity of finger Is a True Joint deformity Inferred relationship Some
Epiphysiodesis for correction of angular deformity Has focus False Joint deformity Inferred relationship Some 2
Flexion contracture of proximal interphalangeal joint of middle finger (disorder) Is a True Joint deformity Inferred relationship Some
Flexion contracture of proximal interphalangeal joint of ring finger Is a True Joint deformity Inferred relationship Some

This concept is not in any reference sets

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