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250087009: Joint deformity (finding)

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

\Deformity (finding)\Joint deformity

\Musculoskeletal finding\Joint finding\Joint deformity

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

1370471000005118 Leddeformitet 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
Joint deformity	Is a	fund vedr. ledform	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 (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Multiple joint deformity	Is a	True	Joint deformity	Inferred relationship	Some
objektivt: led abnormt	Associated finding	False	Joint deformity	Inferred relationship	Some
objektivt: flere abnorme led	Associated finding	False	Joint deformity	Inferred relationship	Some
objektivt: albueled abnormt	Associated finding	False	Joint deformity	Inferred relationship	Some
objektivt: håndled abnormt	Associated finding	False	Joint deformity	Inferred relationship	Some
objektivt: abnormt håndled	Associated finding	False	Joint deformity	Inferred relationship	Some
objektivt: abnormt fingerled	Associated finding	False	Joint deformity	Inferred relationship	Some
objektivt: abnormt hofteled	Associated finding	False	Joint deformity	Inferred relationship	Some
objektivt: abnormt knæled	Associated finding	False	Joint deformity	Inferred relationship	Some
objektivt: låst knæ	Associated finding	False	Joint deformity	Inferred relationship	Some
objektivt: ankelled abnormt	Associated finding	False	Joint deformity	Inferred relationship	Some
objektivt: abnormt led i fod	Associated finding	False	Joint deformity	Inferred relationship	Some
objektivt: tåled abnormt	Associated finding	False	Joint deformity	Inferred relationship	Some
objektivt: nakkeled abnormt	Associated finding	False	Joint deformity	Inferred relationship	Some
objektivt: låst led	Associated finding	False	Joint deformity	Inferred relationship	Some
objektivt: fikseret leddeformitet	Associated finding	False	Joint deformity	Inferred relationship	Some
objektivt: skulderled abnormt	Associated finding	False	Joint deformity	Inferred relationship	Some
On examination - joint abnormal NOS	Associated finding	False	Joint deformity	Inferred relationship	Some
objektivt: fikseret leddeformitet	Is a	False	Joint deformity	Inferred relationship	Some
Rachitic rosary	Is a	True	Joint deformity	Inferred relationship	Some
Congenital deformity of sacroiliac joint	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 (disorder)	Is a	True	Joint deformity	Inferred relationship	Some
Congenital deformity of lumbosacral joint (disorder)	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	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
A very rare disorder belonging to the heterogeneous group of genetic fibromatoses and with characteristics of 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. Caused by mutations in anthrax toxin receptor 2 gene (ANTRX2) on chromosome 4q21. Transmitted as an autosomal recessive trait.	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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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
1370471000005118	Leddeformitet	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)