21793004: Connective tissue structure (body structure)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\Body tissue structure (body structure)\Connective tissue structure

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

Descriptions:

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	del af	Entire body as a whole	false	Additional relationship	Some
Connective tissue structure	Is a	Body tissue structure (body structure)	true	Inferred relationship	Some

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 (disorder)	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
malignt neoplasme i bindevæv og bløddele i skulder	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
Nephrosis co-occurrent and due to systemic lupus erythematosus	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, amongst others.	Finding site	False	Connective tissue structure	Inferred relationship	Some	1
A rare hereditary basal epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age. There is evidence the disease can be caused by homozygous mutation in the EXPH5 gene on chromosome 11q22.	Finding site	False	Connective tissue structure	Inferred relationship	Some
A rare hereditary basal epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimeters big. There is evidence the disease is caused by homozygous mutation in the DST (BPAG1) gene on chromosome 6p12.	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 type 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, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21.	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 and characteristics of 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. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.	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
Ehlers-Danlos syndrome with periventricular heterotopia	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 subtype of Ehlers-Danlos syndrome with characteristics of skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers. There is evidence the disease is caused by homozygous mutation of gene SLC39A13 on chromosome 11p11.2.	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
Ehlers-Danlos syndrome vascular-like type	Finding site	False	Connective tissue structure	Inferred relationship	Some	4
A very rare developmental defect with connective tissue involvement disorder that has characteristics of 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 (such as 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 and characteristics of 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. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.	Finding site	True	Connective tissue structure	Inferred relationship	Some	3
Cutis laxa, autosomal recessive (disorder)	Finding site	True	Connective tissue structure	Inferred relationship	Some	1
Inherited cutis laxa	Finding site	True	Connective tissue structure	Inferred relationship	Some	1
lokaliseret hudatrofi på abdominalvæggen	Finding site	False	Connective tissue structure	Inferred relationship	Some	2
Neonatal cutis laxa with marfanoid phenotype (disorder)	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 (such as bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only). Caused by homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13.	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	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 (disorder)	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 very rare secondary neonatal autoimmune disease with characteristics of 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
systemisk sklerose fremkaldt af lægemidler eller kemikalier	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

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Reference Sets

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

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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
2614541000005119	Bindevæv	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)