21793004: Connective tissue structure (body structure)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Connective tissue structure (body structure)	Is a	Structure of soft tissue (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Connective tissue structure (body structure)	partie de	Entire body as a whole (body structure)	false	Additional relationship (core metadata concept)	Existential restriction modifier (core metadata concept)
Connective tissue structure (body structure)	Is a	Body tissue structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital connective tissue disorder	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital cyst of canal of Nuck	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital epicardial cyst	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Lupus erythematosus of oral mucous membrane	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Nephropathy co-occurrent and due to systemic lupus erythematosus (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lymphangiomyomatosis of connective tissue (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Malignant neoplasm of connective and soft tissue of shoulder	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Gingival disease due to lupus erythematosus (disorder)	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Pemphigus vulgaris of gingival mucous membrane (disorder)	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Nephrotic syndrome co-occurrent and due to systemic lupus erythematosus (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Epidermolysis bullosa simplex due to plakophilin deficiency (disorder)	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
néphrose coocurrente avec et due au lupus érythémateux systémique	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Disorder of connective tissue co-occurrent and due to systemic disease (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A form of junctional epidermolysis bullosa characterised 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 (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Grange syndrome	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Blindness, scoliosis, arachnodactyly syndrome (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cutis laxa of bilateral lower eyelid (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cutis laxa of bilateral upper eyelid (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dystrophic epidermolysis bullosa nails only (disorder)	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Laryngo-onycho-cutaneous syndrome (disorder)	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Neoplasm of uncertain behavior of connective and soft tissue	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Basal epidermolysis bullosa simplex (disorder)	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Epidermolysis bullosa simplex with muscular dystrophy	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Transient bullous dermolysis of newborn (disorder)	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe generalized recessive dystrophic epidermolysis bullosa (disorder)	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Keratin 14 related epidermolysis bullosa simplex (disorder)	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Junctional epidermolysis bullosa non-Herlitz type (disorder)	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Centripetalis recessive dystrophic epidermolysis bullosa	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder)	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Suprabasal epidermolysis bullosa simplex (disorder)	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Chorea co-occurrent and due to systemic lupus erythematosus	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Polyneuropathy co-occurrent and due to systemic connective tissue disorder (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Demyelination of central nervous system co-occurrent and due to Sjogren disease (disorder)	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Demyelination of central nervous system co-occurrent and due to systemic lupus erythematosus (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autoimmune connective tissue disorder	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	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 (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder of eye co-occurrent and due to Marfan syndrome (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dilatation of aortic root due to Marfan's syndrome (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Disorder of cardiovascular system co-occurrent and due to Marfan syndrome	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Pericarditis secondary to systemic lupus erythematosus	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Pericarditis secondary to collagen vascular disease	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pediatric onset Sjögren syndrome	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neonatal Marfan syndrome	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neonatal Marfan syndrome	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cartilage structure (body structure)	Is a	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal systemic lupus erythematosus (disorder)	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	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 (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Epidermolysis bullosa simplex due to BP230 deficiency	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Brittle cornea syndrome (disorder)	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	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 (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
SCARF syndrome	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ehlers-Danlos syndrome musculocontractural type (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	6
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility.	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ehlers-Danlos syndrome due to tenascin-X deficiency	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ehlers-Danlos syndrome kyphoscoliotic type	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive cutis laxa type 2B	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Craniofaciofrontodigital syndrome (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Ehlers-Danlos and osteogenesis imperfecta syndrome	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	4
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Ehlers-Danlos syndrome cardiac valvular type	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Ehlers-Danlos syndrome kyphoscoliotic and deafness type	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Ehlers-Danlos syndrome spondylocheirodysplastic type	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ehlers-Danlos syndrome progeroid type	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
syndrome d'Ehlers-Danlos type vasculaire-like	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Cutis laxa, recessive, type I (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cutis laxa, x-linked	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cutis laxa, recessive, type II	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
SCARF syndrome	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Localized congenital cutis laxa (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cutis laxa, autosomal dominant	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive cutis laxa type 2B	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cutis laxa, autosomal recessive (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Inherited cutis laxa	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Localized abdominal wall skin atrophy	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neonatal cutis laxa with marfanoid phenotype	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	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 (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive systemic sclerosis (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Systemic sclerosis, diffuse	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Systemic sclerosis caused by chemical (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Systemic sclerosis sine scleroderma	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Occupational scleroderma	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pericarditis due to systemic sclerosis	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pediatric onset systemic sclerosis (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Renal involvement in scleroderma (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acute scleroderma renal crisis (disorder)	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Reynolds syndrome (RS) is an autoimmune disorder characterised by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc).	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Neonatal scleroderma	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lung disease with systemic sclerosis	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Systemic sclerosis with limited cutaneous involvement	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
sclérose systémique due à des médicaments et des produits chimiques	Finding site	False	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Limited systemic sclerosis	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Systemic sclerosis	Finding site	True	Connective tissue structure (body structure)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Glomerulonephritis co-occurrent and due to scleroderma (disorder)	Finding site	True	Connective tissue structure (body structure)	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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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
36570017	Connective tissue	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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