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21793004: Connective tissue structure (body structure)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
36570017 Connective tissue en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
481120014 Connective tissue structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
751127014 Connective tissue structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4046 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Connective tissue structure Is a Structure of soft tissue (body structure) false Inferred relationship Some
Connective tissue structure partie de Entire body as a whole false Additional relationship Some
Connective tissue structure Is a Body tissue structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Glomerulonephritis co-occurrent and due to scleroderma (disorder) Finding site True Connective tissue structure Inferred relationship Some 2
A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones and progresses in a distal to proximal pattern. Congenital overgrowth is typically associated. Finding site True Connective tissue structure Inferred relationship Some 2
Tunica adventitia Is a True Connective tissue structure Inferred relationship Some
A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (including long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, anomalies of the palate and uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation. Finding site True Connective tissue structure Inferred relationship Some 4
CREST syndrome Finding site True Connective tissue structure Inferred relationship Some 4
A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated. Finding site True Connective tissue structure Inferred relationship Some 2
CRST syndrome Finding site True Connective tissue structure Inferred relationship Some 4
Nodular fasciitis (disorder) Finding site True Connective tissue structure Inferred relationship Some 2
Intradermal nodular fasciitis (disorder) Finding site True Connective tissue structure Inferred relationship Some 2
Parosteal nodular fasciitis (disorder) Finding site True Connective tissue structure Inferred relationship Some 2
Williams syndrome (disorder) Finding site True Connective tissue structure Inferred relationship Some 3
Epineurium Is a True Connective tissue structure Inferred relationship Some
Cutis laxa, x-linked Finding site True Connective tissue structure Inferred relationship Some 2
Familial articular hypermobility syndrome (disorder) Finding site True Connective tissue structure Inferred relationship Some 3
A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility. Finding site True Connective tissue structure Inferred relationship Some 3
Demyelination of central nervous system co-occurrent and due to Sjogren disease (disorder) Finding site True Connective tissue structure Inferred relationship Some 2
Pediatric onset Sjögren syndrome Finding site True Connective tissue structure Inferred relationship Some 1
Drug-induced lupus erythematosus Finding site True Connective tissue structure Inferred relationship Some 1
Drug-induced systemic lupus erythematosus Finding site True Connective tissue structure Inferred relationship Some 1
Keratoconjunctivitis sicca, in Sjögren's syndrome Finding site True Connective tissue structure Inferred relationship Some 2
Lymphoepithelial sialadenitis of Sjögren's syndrome Finding site True Connective tissue structure Inferred relationship Some 2
Primary Sjögren's syndrome (disorder) Finding site True Connective tissue structure Inferred relationship Some 1
Lung disease with Sjögren's disease (disorder) Finding site False Connective tissue structure Inferred relationship Some 1
Malignant neoplasm of bone, connective tissue, skin and breast Finding site True Connective tissue structure Inferred relationship Some 1
Sarcoma of bone and connective tissue Finding site False Connective tissue structure Inferred relationship Some 2
Carcinoma of bone, connective tissue, skin and breast Finding site True Connective tissue structure Inferred relationship Some 1
Malignant neoplasm of connective and soft tissue of forearm Finding site False Connective tissue structure Inferred relationship Some 1
Malignant neoplasm of connective and soft tissue of upper limb and shoulder Finding site False Connective tissue structure Inferred relationship Some 2
Malignant neoplasm of connective and soft tissue of abdominal wall Finding site False Connective tissue structure Inferred relationship Some 1
Malignant neoplasm of connective and soft tissue of buttock Finding site False Connective tissue structure Inferred relationship Some 2
Malignant neoplasm of connective and soft tissue of finger Finding site False Connective tissue structure Inferred relationship Some 1
Malignant neoplasm of connective and soft tissue of hand Finding site False Connective tissue structure Inferred relationship Some 1
Malignant neoplasm of connective and soft tissue of inguinal region Finding site False Connective tissue structure Inferred relationship Some 1
Malignant neoplasm of connective and soft tissue of perineum Finding site False Connective tissue structure Inferred relationship Some 1
Malignant neoplasm of connective and soft tissue of popliteal space Finding site False Connective tissue structure Inferred relationship Some 1
Malignant neoplasm of connective and soft tissue, upper arm Finding site False Connective tissue structure Inferred relationship Some 1
Malignant neoplasm of connective and soft tissues of lumbar spine Finding site False Connective tissue structure Inferred relationship Some 1
Malignant neoplasm of connective and soft tissue of sacrococcygeal region Finding site False Connective tissue structure Inferred relationship Some 2
Malignant neoplasm of connective and soft tissue of thumb Finding site False Connective tissue structure Inferred relationship Some 1
Malignant neoplasm of connective and soft tissue of hip and lower limb Finding site False Connective tissue structure Inferred relationship Some 2
Connective tissue biomatrix implant This attribute represents the site where the device is intended to reside in or on the body. True Connective tissue structure Inferred relationship Some
De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. Finding site True Connective tissue structure Inferred relationship Some 3
Marfan syndrome type 1 Finding site True Connective tissue structure Inferred relationship Some 1
Neonatal lupus erythematosus Finding site True Connective tissue structure Inferred relationship Some 1
Lung disease with Sjögren's disease (disorder) Finding site True Connective tissue structure Inferred relationship Some 2
Juvenile dermatomyositis overlap syndrome (disorder) Finding site True Connective tissue structure Inferred relationship Some 1
Polymyositis overlap syndrome Finding site True Connective tissue structure Inferred relationship Some 1
Dermatomyositis overlap syndrome (disorder) Finding site True Connective tissue structure Inferred relationship Some 1
Diffuse systemic sclerosis of childhood (disorder) Finding site True Connective tissue structure Inferred relationship Some 1
Trabecular meshwork structure Is a True Connective tissue structure Inferred relationship Some
Subserosa of gallbladder Is a True Connective tissue structure Inferred relationship Some
Appendiceal submucosa Is a True Connective tissue structure Inferred relationship Some
Structure of supporting tissue of urinary bladder Is a True Connective tissue structure Inferred relationship Some
Colonic subserosa Is a True Connective tissue structure Inferred relationship Some
Gastric submucosa Is a True Connective tissue structure Inferred relationship Some
Gastric subserosa Is a True Connective tissue structure Inferred relationship Some
Appendiceal subserosa Is a True Connective tissue structure Inferred relationship Some
Small intestine subserosa Is a True Connective tissue structure Inferred relationship Some
Structure of subserosal tissue of liver (body structure) Is a True Connective tissue structure Inferred relationship Some
Small intestine submucosa Is a True Connective tissue structure Inferred relationship Some
Structure of supporting tissue of rectum Is a True Connective tissue structure Inferred relationship Some
Connective tissue structure of testis Is a True Connective tissue structure Inferred relationship Some
Uterine submucosa Is a True Connective tissue structure Inferred relationship Some
Structure of connective tissue of thorax (body structure) Is a True Connective tissue structure Inferred relationship Some
Dilated cardiomyopathy with connective tissue disorder (disorder) Finding site True Connective tissue structure Inferred relationship Some 2
Sarcoma of bone and connective tissue Finding site True Connective tissue structure Inferred relationship Some 1
A rare developmental defect with connective tissue involvement characterized by joint hyperextensibility and multiple dislocations of large joints, severe myopia, and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus, and progressive hearing loss. Finding site True Connective tissue structure Inferred relationship Some 2
A form of Ehlers-Danlos syndrome (EDS) with characteristics of extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and sometimes major complications due to visceral and vascular fragility. Finding site True Connective tissue structure Inferred relationship Some 3
A rare hereditary disease with peripheral neuropathy characterized by distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility, and recurrent tendon ruptures. Finding site True Connective tissue structure Inferred relationship Some 1
Metastatic carcinoma to bone, connective tissue, skin and breast (disorder) Finding site True Connective tissue structure Inferred relationship Some 1
A rare connective tissue disorder for which three subtypes exist, either related to the gene B4GALT7, B3GALT6 or SLC39A13, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet muscular hypotonia (ranging from congenitally severe to mild with later onset), skeletal anomalies and, more variably, osteopenia, delayed motor development and bowing of the limbs. Gene-specific features, with variable presentation, are additionally observed in each subtype. Finding site True Connective tissue structure Inferred relationship Some 3
A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B3GALT6 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalized osteoporosis), joint contractures and ascending aortic aneurysm. Finding site True Connective tissue structure Inferred relationship Some 4
A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis. Finding site True Connective tissue structure Inferred relationship Some 3
A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive. Finding site True Connective tissue structure Inferred relationship Some 3
Pseudoxanthoma elasticum caused by penicillamine Finding site True Connective tissue structure Inferred relationship Some 1
Pseudoxanthoma elasticum due to hemoglobinopathy Finding site True Connective tissue structure Inferred relationship Some 1
Acquired perforating pseudoxanthoma elasticum of periumbilical region (disorder) Finding site True Connective tissue structure Inferred relationship Some 2
Malignant neoplasm of connective and soft tissue of buttock Finding site False Connective tissue structure Inferred relationship Some 1
Malignant neoplasm of connective and soft tissue of sacrococcygeal region Finding site False Connective tissue structure Inferred relationship Some 1
Malignant neoplasm of connective and soft tissue of shoulder Finding site False Connective tissue structure Inferred relationship Some 1
Malignant neoplasm of connective and soft tissue of hip and lower limb Finding site False Connective tissue structure Inferred relationship Some 1
Malignant neoplasm of connective and soft tissue of upper limb and shoulder Finding site False Connective tissue structure Inferred relationship Some 1
Primary carcinoma of bone, connective tissue, skin and breast Finding site False Connective tissue structure Inferred relationship Some 1
Primary fibrosarcoma of connective tissue Finding site True Connective tissue structure Inferred relationship Some 1
A rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and sometimes other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). Localized scleroderma is the cutaneous form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques (morphea) or strips (linear scleroderma). Systemic sclerosis (SSc) is a generalized disorder characterized by fibrosis and vascular obliteration in the skin and organs, particularly, lungs, heart, and digestive tract. The exact cause of scleroderma is unknown. The disease originates from an autoimmune reaction, which leads to localized overproduction of collagen. In some cases, the condition is associated with exposure to chemicals. Other suggested causes include genetic and infectious mechanisms. Finding site True Connective tissue structure Inferred relationship Some 1
Coup de sabre scleroderma Finding site True Connective tissue structure Inferred relationship Some 3
Linear scleroderma Finding site True Connective tissue structure Inferred relationship Some 2
Plaque morphea Finding site True Connective tissue structure Inferred relationship Some 2
Localised scleroderma Finding site True Connective tissue structure Inferred relationship Some 2
Guttate morphoea Finding site True Connective tissue structure Inferred relationship Some 2
Subcutaneous morphoea Finding site True Connective tissue structure Inferred relationship Some 2
A rare secondary neonatal autoimmune disease characterized by neonatal onset of erythematous skin lesions with a linear appearance that gradually become indurated and hyperpigmented and progressively present skin atrophy. Positive serum antibodies (in particular antinuclear antibodies and/or rheumatoid factor) may be associated. Finding site True Connective tissue structure Inferred relationship Some 2
A rare inherited connective tissue disorder characterised by skin hyperextensibility, widened atrophic scars and generalised joint hypermobility. The disease is caused by heterozygous mutation in the collagen alpha-2(V) gene (COL5A2) on chromosome 2q31. Finding site True Connective tissue structure Inferred relationship Some 3
Drug-induced lupus erythematosus caused by procainamide (disorder) Finding site True Connective tissue structure Inferred relationship Some 1
Drug-induced lupus erythematosus caused by diphenylhydantoin Finding site True Connective tissue structure Inferred relationship Some 1
Drug-induced lupus erythematosus caused by hydralazine (disorder) Finding site True Connective tissue structure Inferred relationship Some 1
Cranial fasciitis (disorder) Finding site True Connective tissue structure Inferred relationship Some 3
A rare genetic neurometabolic disease with characteristics of prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated. Finding site True Connective tissue structure Inferred relationship Some 3
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome Finding site True Connective tissue structure Inferred relationship Some 3
Lupus pneumonitis (disorder) Finding site True Connective tissue structure Inferred relationship Some 2
A rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others. Finding site True Connective tissue structure Inferred relationship Some 2

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