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39937001: Skin 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
66527011 Skin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
492326013 Skin structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
776485012 Skin structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4249211000005115 hudstruktur da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


1744 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Skin structure Is a Structure of integumentary system (body structure) false Inferred relationship Some
Skin structure Is a An anatomical structure that consists of the maximal set of organ parts so connected to one another that together they constitute a self-contained unit of macroscopic anatomy, distinct both morphologically and functionally from other such units. Together with other organs, an organ constitutes an organ system or a body part. An organ is divisible into organ parts but not organs (examples: femur, biceps, liver, heart, aorta, sciatic nerve, ovary). true Inferred relationship Some
Skin structure Is a Skin and/or subcutaneous tissue structure (body structure) true Inferred relationship Some
Skin structure del af Entire skin AND subcutaneous tissue false Additional relationship Some
Skin structure Is a Structure of skin and/or surface epithelium (body structure) true Inferred relationship Some
Skin structure Is a Structure of skin and/or skin-associated mucous membrane true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit. Finding site False Skin structure Inferred relationship Some 5
A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported. Finding site False Skin structure Inferred relationship Some 5
A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. Finding site False Skin structure Inferred relationship Some 2
Staphylococcal toxin-mediated reaction of skin (disorder) Finding site True Skin structure Inferred relationship Some 1
Neonatal dermatosis caused by maternal antibody (disorder) Finding site True Skin structure Inferred relationship Some 1
Pemphigus of vulva (disorder) Finding site False Skin structure Inferred relationship Some 5
A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported. Finding site False Skin structure Inferred relationship Some 5
Idiopathic pure sudomotor failure (disorder) Finding site False Skin structure Inferred relationship Some 2
Hypohidrosis of unknown etiology (disorder) Finding site False Skin structure Inferred relationship Some
Basal epidermolysis bullosa simplex (disorder) Finding site False Skin structure Inferred relationship Some 5
Spitzoid neoplasm of uncertain malignant potential (disorder) Finding site False Skin structure Inferred relationship Some 2
Spitzoid neoplasm of uncertain malignant potential (disorder) Finding site False Skin structure Inferred relationship Some 3
Acute erythematous eruption of skin Finding site True Skin structure Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973. Finding site True Skin structure Inferred relationship Some 3
A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. Finding site False Skin structure Inferred relationship Some 7
Familial multiple fibrofolliculoma Finding site False Skin structure Inferred relationship Some 3
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. Finding site False Skin structure Inferred relationship Some 4
Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. Finding site False Skin 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 Skin structure Inferred relationship Some 3
Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. Finding site False Skin structure Inferred relationship Some 4
Cutaneous histoplasmosis Finding site True Skin structure Inferred relationship Some 2
Primary cutaneous histoplasmosis Finding site True Skin structure Inferred relationship Some 2
Disseminated cutaneous histoplasmosis Finding site True Skin structure Inferred relationship Some 1
Cutaneous African histoplasmosis Finding site True Skin structure Inferred relationship Some 1
Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. Finding site False Skin structure Inferred relationship Some 3
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. Finding site False Skin structure Inferred relationship Some 6
A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984. Finding site False Skin structure Inferred relationship Some 5
A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996. Finding site False Skin structure Inferred relationship Some
A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or icthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed. Finding site False Skin structure Inferred relationship Some
A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991. Finding site False Skin structure Inferred relationship Some 6
A rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies. Finding site True Skin structure Inferred relationship Some 1
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. Finding site True Skin structure Inferred relationship Some 7
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. Finding site False Skin structure Inferred relationship Some 8
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 Skin structure Inferred relationship Some 2
Clastothrix Finding site False Skin structure Inferred relationship Some 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site False Skin structure Inferred relationship Some 1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Finding site False Skin structure Inferred relationship Some 1
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 Skin structure Inferred relationship Some 4
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 Skin structure Inferred relationship Some 5
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 Skin structure Inferred relationship Some 3
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 Skin structure Inferred relationship Some 4
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Finding site False Skin structure Inferred relationship Some 2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Finding site False Skin structure Inferred relationship Some 2
Clastothrix Finding site False Skin structure Inferred relationship Some 1
A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability. Finding site False Skin structure Inferred relationship Some 3
A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. Finding site False Skin structure Inferred relationship Some 7
Trunk feels cold Finding site True Skin structure Inferred relationship Some 2
Hypohidrosis co-occurrent and due to disorder of sympathetic nervous system (disorder) Finding site False Skin structure Inferred relationship Some
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. Finding site False Skin structure Inferred relationship Some 10
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. Finding site False Skin structure Inferred relationship Some 9
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 Skin structure Inferred relationship Some 5
Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. Finding site False Skin structure Inferred relationship Some 5
Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. Finding site False Skin structure Inferred relationship Some 6
Junctional epidermolysis bullosa non-Herlitz type (disorder) Finding site False Skin structure Inferred relationship Some 3
Junctional epidermolysis bullosa non-Herlitz type (disorder) Finding site False Skin structure Inferred relationship Some 4
Ichthyosis-hypotrichosis syndrome is characterized by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation. Finding site False Skin structure Inferred relationship Some 3
A rare genetic neurological disease characterized by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells. Finding site False Skin structure Inferred relationship Some 3
Ichthyosis-hypotrichosis syndrome is characterized by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation. Finding site False Skin structure Inferred relationship Some 2
Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. Finding site True Skin structure Inferred relationship Some 2
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. Finding site False Skin structure Inferred relationship Some 3
Generalized rash (disorder) Finding site True Skin structure Inferred relationship Some 1
An intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported. Finding site True Skin structure Inferred relationship Some 3
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. Finding site False Skin structure Inferred relationship Some 4
Centripetalis recessive dystrophic epidermolysis bullosa (disorder) Finding site False Skin structure Inferred relationship Some 4
Centripetalis recessive dystrophic epidermolysis bullosa (disorder) Finding site False Skin structure Inferred relationship Some 5
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities. Finding site False Skin structure Inferred relationship Some 4
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities. Finding site False Skin structure Inferred relationship Some 5
Nonerosive lichen planus of oral mucosa (disorder) Finding site True Skin structure Inferred relationship Some 3
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis characterized by the presence of large dark scales in specific areas of the body. Finding site False Skin structure Inferred relationship Some 1
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995. Finding site True Skin structure Inferred relationship Some 1
A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. It may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of the disorder that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic purpura fulminans. Finding site False Skin structure Inferred relationship Some 6
Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degree relatives or more relatives in an affected family. Finding site True Skin structure Inferred relationship Some 1
Pruritus caused by drug (disorder) Finding site False Skin structure Inferred relationship Some 3
Pruritus due to neurological disorder (disorder) Finding site False Skin structure Inferred relationship Some 1
Hereditary skin fragility (disorder) Finding site True Skin structure Inferred relationship Some 1
Purpura of skin and/or skin-associated mucous membrane co-occurrent and due to coagulation disorder (disorder) Finding site False Skin structure Inferred relationship Some 4
Purpura of skin and/or skin-associated mucous membrane co-occurrent and due to coagulation disorder (disorder) Finding site False Skin structure Inferred relationship Some 5
Chronic radiodermatitis due to and following radiotherapy caused by ionizing radiation (disorder) Finding site True Skin structure Inferred relationship Some 4
Primary malignant neoplasm of skin due to and following radiotherapy Finding site True Skin structure Inferred relationship Some 3
Necrosis of skin due to and following injection of filler (disorder) Finding site True Skin structure Inferred relationship Some 3
Contact dermatitis caused by protein Finding site False Skin structure Inferred relationship Some 1
Occupationally-acquired disorder of skin pigmentation (disorder) Finding site True Skin structure Inferred relationship Some 1
Lesion of skin due to diabetes mellitus (disorder) Finding site True Skin structure Inferred relationship Some 2
Localized eruption of skin (disorder) Finding site True Skin structure Inferred relationship Some 1
Ataxia co-occurrent and due to cerebrotendinous xanthomatosis Finding site False Skin structure Inferred relationship Some 2
Acquired anhidrosis co-occurrent and due to primary autonomic disorder (disorder) Finding site False Skin structure Inferred relationship Some
Allergic contact dermatitis caused by hairdressing product Finding site True Skin structure Inferred relationship Some 1
Allergic contact blepharoconjunctivitis (disorder) Finding site False Skin structure Inferred relationship Some 4
Irritant contact dermatitis caused by cosmetic substance Finding site False Skin structure Inferred relationship Some 2
Irritant contact dermatitis caused by cosmetic substance Finding site False Skin structure Inferred relationship Some 3
Occupational contact dermatitis (disorder) Finding site False Skin structure Inferred relationship Some 1
Dystrophic calcification of skin due to inflammatory disease (disorder) Finding site True Skin structure Inferred relationship Some 2
Keratinopathic ichthyosis (disorder) Finding site False Skin structure Inferred relationship Some 1
A group of rare autosomal recessive forms of ichthyosis clinically characterized by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution for generalized PSS type A (noninflammatory) or B (inflammatory). Finding site True Skin structure Inferred relationship Some 4
A group of rare autosomal recessive forms of ichthyosis clinically characterized by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution for generalized PSS type A (noninflammatory) or B (inflammatory). Finding site False Skin structure Inferred relationship Some 5
Genetic disorder of skin pigmentation (disorder) Finding site True Skin structure Inferred relationship Some 1
Disorder of skin following procedure (disorder) Finding site True Skin structure Inferred relationship Some 2
Acute radiodermatitis due to and following radiotherapy Finding site True Skin structure Inferred relationship Some 4
Allergic contact sensitization of skin and skin-associated mucous membrane Finding site False Skin structure Inferred relationship Some 2
Exacerbation of constitutional dermatitis due to occupation (disorder) Finding site True Skin structure Inferred relationship Some 1
Occupational injury of skin caused by corrosive substance (disorder) Finding site True Skin structure Inferred relationship Some 1

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Reference Sets

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

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

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