Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Congenital connective tissue disorder |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Congenital cyst of canal of Nuck |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
3 |
Congenital epicardial cyst |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
4 |
Lupus erythematosus affecting oral mucosa. This may be associated with either cutaneous or systemic lupus erythematosus and presents most commonly as mucosal ulceration. |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
2 |
Nephropathy co-occurrent and due to systemic lupus erythematosus (disorder) |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
2 |
Lymphangiomyomatosis of connective tissue (disorder) |
Finding site |
True |
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 |
3 |
Gingival disease due to lupus erythematosus (disorder) |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
3 |
Pemphigus vulgaris of gingival mucous membrane (disorder) |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
Nephrotic syndrome co-occurrent and due to systemic lupus erythematosus (disorder) |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
5 |
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex characterized by generalized superficial erosions and less commonly blistering. |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth. |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications. |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
néphrose coocurrente avec et due au lupus érythémateux systémique |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
3 |
Disorder of connective tissue co-occurrent and due to systemic disease (disorder) |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
A form of junctional epidermolysis bullosa characterized by onset in childhood or young adulthood of blistering that first occurs around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, and knees. Lesions heal with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries. |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by early onset of hypertension and multifocal stenotic lesions of various arteries (including cerebral, renal, abdominal, and coronary). Variable additional features include learning difficulties, mild facial dysmorphism, anomalies of the fingers and toes, bone fragility, and congenital heart defects. |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes. |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Cutis laxa of bilateral lower eyelid (disorder) |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
3 |
Cutis laxa of bilateral upper eyelid (disorder) |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
3 |
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed. |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
Neoplasm of uncertain behavior of connective and soft tissue |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
2 |
Basal epidermolysis bullosa simplex (disorder) |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
2 |
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
A rare, inherited, epidermolysis bullosa simplex characterized by neonatal onset of generalized or, less frequently, localized acral blistering. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles). Severe generalized blistering may cause perinatal death or persist during the entire life. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation. |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
Junctional epidermolysis bullosa non-Herlitz type (disorder) |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
Centripetalis recessive dystrophic epidermolysis bullosa (disorder) |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities. |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
Suprabasal epidermolysis bullosa simplex (disorder) |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
Chorea co-occurrent and due to systemic lupus erythematosus |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
2 |
Polyneuropathy co-occurrent and due to systemic connective tissue disorder (disorder) |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Demyelination of central nervous system co-occurrent and due to Sjogren disease (disorder) |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
4 |
Demyelination of central nervous system co-occurrent and due to systemic lupus erythematosus (disorder) |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
3 |
Autoimmune connective tissue disorder |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement. |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
Disorder of eye co-occurrent and due to Marfan syndrome (disorder) |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
3 |
Dilatation of aortic root due to Marfan's syndrome (disorder) |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Disorder of cardiovascular system co-occurrent and due to Marfan syndrome (disorder) |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
3 |
Pericarditis secondary to systemic lupus erythematosus |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
3 |
Pericarditis secondary to collagen vascular disease |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Pediatric onset Sjögren syndrome |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
2 |
Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occurring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a senile facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated. |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occurring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a senile facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated. |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
3 |
Cartilage structure (body structure) |
Is a |
True |
Connective tissue structure |
Inferred relationship |
Some |
|
RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
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 |
False |
Connective tissue structure |
Inferred relationship |
Some |
1 |
A rare, inherited, epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age. |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
A rare, inherited, epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side. |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
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 |
False |
Connective tissue structure |
Inferred relationship |
Some |
4 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994. |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
A rare multiple congenital anomalies syndrome characterised by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and abnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on. |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
2 |
A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis. |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
6 |
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
3 |
A form of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, fragile and thin hand skin breaks or bruises easily), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
3 |
A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
3 |
A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
|
A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
3 |
Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies). |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
4 |
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
4 |
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
4 |
A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency. |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
4 |
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
4 |
A form of spondylodysplastic Ehlers-Danlos syndrome (EDS) due to variants in the SLC39A13 gene and characterized by the presence of thin and finely wrinkled skin of the hands and feet, hypermobile distal joints, characteristic facial features (downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia or oligodontia), muscular hypotonia, associated with significant short stature of childhood-onset, ocular findings (myopia and keratoconus) and, more rarely, vascular complications. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature. |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
3 |
A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B4GALT7 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities. |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
3 |
syndrome d'Ehlers-Danlos type vasculaire-like |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
4 |
A rare developmental defect with connective tissue involvement disorder characterized by tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (i.e. hallux valgus, talipes equinovarus). |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
4 |
Cutis laxa, recessive, type I |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Cutis laxa, x-linked |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Cutis laxa, recessive, type II |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
A rare multiple congenital anomalies syndrome characterised by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and abnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on. |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
5 |
Localized congenital cutis laxa (disorder) |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Cutis laxa, autosomal dominant |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
3 |
Cutis laxa, autosomal recessive |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Inherited cutis laxa |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Localized abdominal wall skin atrophy |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
2 |
Neonatal cutis laxa with marfanoid phenotype |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
A rare, genetic, dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe, usually early-onset, pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (i.e. bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only). |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Progressive systemic sclerosis (disorder) |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Systemic sclerosis, diffuse (disorder) |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Systemic sclerosis caused by chemical (disorder) |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Systemic sclerosis sine scleroderma |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Occupational scleroderma (disorder) |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Pericarditis secondary to scleroderma |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Pediatric onset systemic sclerosis (disorder) |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Renal involvement in scleroderma |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Acute scleroderma renal crisis |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc). |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
3 |
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 |
False |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Lung disease with systemic sclerosis |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Systemic sclerosis with limited cutaneous involvement |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
sclérose systémique due à des médicaments et des produits chimiques |
Finding site |
False |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Limited systemic sclerosis |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Systemic sclerosis |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
1 |
Glomerulonephritis co-occurrent and due to scleroderma (disorder) |
Finding site |
True |
Connective tissue structure |
Inferred relationship |
Some |
2 |