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785818007: Structure of joint region (body structure)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3768577019 Structure of joint region en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3768578012 Structure of joint region (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3768577019 Structure of joint region en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3768578012 Structure of joint region (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5738 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Structure of joint region Is a Body region structure true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
The body part defined by the shoulder joint and its surrounding structures Is a True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept)
Entire joint region Is a True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept)
Elbow region structure Is a True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept)
Joint structure Is a True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept)
Wrist region structure (body structure) Is a True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept)
Hip region structure (body structure) Is a True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept)
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Arthrogryposis Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal arthrogryposis type 4 (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal congenital contracture syndrome type 2 Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal. Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
à l'examen : contracture articulaire Finding site False Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Flexion contracture Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Structure of soft tissue of joint region Is a True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept)
Amyoplasie, kongenitale Finding site False Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
On examination - flexion contracture Finding site False Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 4
Structure of hand joint region Is a True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal congenital contracture syndrome type 3 (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Structure of joint region of vertebral column (body structure) Is a True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept)
Freeman-Sheldon syndrome Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Structure of joint region of lower limb Is a True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept)
Inherited arthrogryposis Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 5
X-linked lethal multiple pterygium syndrome (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome musculocontractural type (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 4
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypomyelination neuropathy arthrogryposis syndrome (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal congenital contracture syndrome type 5 Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 3
A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant multiple pterygium syndrome (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal arthrogryposis type 5D (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) Finding site False Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked distal arthrogryposis multiplex congenita (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Intellectual disability, developmental delay, contracture syndrome Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare genetic lethal non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed. There is evidence this disease is caused by homozygous mutation in the CNTN1 gene on chromosome 12q12. Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital neuropathy with arthrogryposis multiplex congenita Finding site False Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 3
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Arthrogryposis hyperkeratosis syndrome lethal form Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Finding of joint movement Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Contracture of joint Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Digitotalar dysmorphism Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Joint stiffness Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
On examination - reduced joint movement Finding site False Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
On examination - reduced movement of spine Finding site False Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
On examination - reduced movement of arm Finding site False Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Disorder of joint region Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Contracture of multiple joints Finding site False Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and carp-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Contracture of joint following injury (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial arthrogryposis-cholestatic hepatorenal syndrome Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 4
Lethal congenital contracture syndrome type 1 (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital arthrogryposis caused by teratogen (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
à l'examen : mouvement de l'articulation Finding site False Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
On examination - reduced movement of wrist Finding site False Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Range of joint movement normal Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Finding of range of joint movement Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Range of joint movement increased (finding) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Active range of joint movement increased Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Passive range of joint movement increased (finding) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
à l'examen : aucune anomalie détectée au mouvement de l'articulation Finding site False Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
à l'examen : mouvement de l'articulation anormal Finding site False Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 3
Active range of joint movement reduced Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Passive range of joint movement reduced Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Joint movement absent Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Active range of joint movement absent (finding) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
On examination - joint stiff Finding site False Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Passive range of joint movement absent Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Active range of joint movement normal Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Limitation of joint movement (finding) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Capsular pattern of joint movement limitation Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Kuskokwim syndrome Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 7
Joint function disorder (finding) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Joint catching Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital contractural arachnodactyly Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple stiff joints (finding) Finding site False Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Joint movement NAD Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Immobility stiffness Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Passive range of joint movement normal Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Weakness of joint movement Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Morning stiffness - joint Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Structure of temporomandibular joint region Is a True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept)
Passive joint movement greater than active joint movement Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Joint moves with gravity (finding) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Joint moves against resistance Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Joint moves against gravity (finding) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal arthrogryposis type 3 (disorder) Finding site True Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial normophosphatemic tumoral calcinosis Finding site False Structure of joint region Inferred relationship Existential restriction modifier (core metadata concept) 2

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Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

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