181469002: Entire skin (body structure)

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

\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).\Entire body organ\Entire skin
\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).\Skin structure\Entire skin

\Physical anatomical entity\Material anatomical entity\Entire body organ\Entire skin

\Body tissue structure\Structure of soft tissue (body structure)\Skin and/or subcutaneous tissue structure (body structure)\Skin structure\Entire skin

\Body region structure\Skin and/or subcutaneous tissue structure (body structure)\Skin structure\Entire skin

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

280522019 Entire skin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

564720017 Entire skin (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

163611000274112 Gesamte Haut de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Entire skin	Is a	Integumentary system subdivision	true	Inferred relationship	Some
Entire skin	Is a	Skin structure	true	Inferred relationship	Some
Entire skin	Is a	Entire body organ	true	Inferred relationship	Some
Entire skin	partie de	Entire skin AND subcutaneous tissue	false	Additional relationship	Some
Entire skin	partie de	Entire body system	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal dominant ichthyosis (disorder)	Finding site	True	Entire skin	Inferred relationship	Some	1
Autosomal recessive ichthyosis (disorder)	Finding site	True	Entire skin	Inferred relationship	Some	1
Ichthyosis hystrix	Finding site	True	Entire skin	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	Finding site	True	Entire skin	Inferred relationship	Some	1
Ichthyosis linearis circumflexa	Finding site	True	Entire skin	Inferred relationship	Some	1
Erythrokeratodermia variabilis	Finding site	True	Entire skin	Inferred relationship	Some	1
Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.	Finding site	True	Entire skin	Inferred relationship	Some	1
A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.	Finding site	True	Entire skin	Inferred relationship	Some	1
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.	Finding site	True	Entire skin	Inferred relationship	Some	1
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities.	Finding site	True	Entire skin	Inferred relationship	Some	1
A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.	Finding site	True	Entire skin	Inferred relationship	Some	1
A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs.	Finding site	True	Entire skin	Inferred relationship	Some	3
A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma.	Finding site	True	Entire skin	Inferred relationship	Some	2
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	True	Entire skin	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	True	Entire skin	Inferred relationship	Some	3
Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two siblings born to first cousin parents. Transmission appears to be autosomal recessive.	Finding site	True	Entire skin	Inferred relationship	Some	3
Congenital cataract ichthyosis syndrome	Finding site	True	Entire skin	Inferred relationship	Some	2
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.	Finding site	True	Entire skin	Inferred relationship	Some	2
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.	Finding site	True	Entire skin	Inferred relationship	Some	2
Ichthyosis cheek eyebrow syndrome (disorder)	Finding site	True	Entire skin	Inferred relationship	Some	1
A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) characterized by a generally mild cutaneous desquamation in association with extracutaneous manifestations as part of a syndrome.	Finding site	True	Entire skin	Inferred relationship	Some	1
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.	Finding site	True	Entire skin	Inferred relationship	Some	2
X-linked ichthyosis with steryl-sulfatase deficiency	Finding site	True	Entire skin	Inferred relationship	Some	1
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.	Finding site	True	Entire skin	Inferred relationship	Some	3
Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toenails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.	Finding site	True	Entire skin	Inferred relationship	Some	2
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities.	Finding site	True	Entire skin	Inferred relationship	Some	1
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.	Finding site	True	Entire skin	Inferred relationship	Some	2
Porokeratosis of Mibelli	Finding site	False	Entire skin	Inferred relationship	Some	3
Porokeratosis of Mibelli, linear unilateral type	Finding site	False	Entire skin	Inferred relationship	Some	6
Senile ichthyosis	Finding site	True	Entire skin	Inferred relationship	Some	1
Acquired ichthyosis	Finding site	True	Entire skin	Inferred relationship	Some	2
Ichthyosis bullosa of Siemens	Finding site	True	Entire skin	Inferred relationship	Some	1
Keratinopathic ichthyosis (disorder)	Finding site	True	Entire skin	Inferred relationship	Some	1
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	True	Entire skin	Inferred relationship	Some	1
A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.	Finding site	True	Entire skin	Inferred relationship	Some	1
Ichthyosis	Finding site	True	Entire skin	Inferred relationship	Some	1
A rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.	Finding site	True	Entire skin	Inferred relationship	Some	1
Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis disorder characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.	Finding site	True	Entire skin	Inferred relationship	Some	1
Follicular ichthyosis	Finding site	True	Entire skin	Inferred relationship	Some	3
A rare congenital ectodermal disorder characterised by vascularising keratitis, hyperkeratotic skin lesions and hearing loss.	Finding site	True	Entire skin	Inferred relationship	Some	3
Harlequin fetus	Finding site	True	Entire skin	Inferred relationship	Some	1
Autosomal recessive epidermolytic ichthyosis (disorder)	Finding site	True	Entire skin	Inferred relationship	Some	1
A form of peeling skin syndrome characterized by a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial non-inflammatory peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy.	Finding site	True	Entire skin	Inferred relationship	Some	3
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	Entire skin	Inferred relationship	Some	1
Acral peeling skin syndrome	Finding site	True	Entire skin	Inferred relationship	Some	1
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995.	Finding site	True	Entire skin	Inferred relationship	Some	1
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported.	Finding site	True	Entire skin	Inferred relationship	Some	1
A rare genetic disease characterised by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalised hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesaemia, hypokalaemia, hypercalcaemia, and hypocalciuria.	Finding site	True	Entire skin	Inferred relationship	Some	1
Bathing skin of full body of subject in bed (procedure)	Procedure site - Direct (attribute)	True	Entire skin	Inferred relationship	Some	1
Pale complexion (finding)	Finding site	False	Entire skin	Inferred relationship	Some	1
Pale discoloration of entire skin of body (finding)	Finding site	True	Entire skin	Inferred relationship	Some	2
Generalized inflammatory peeling skin syndrome	Finding site	True	Entire skin	Inferred relationship	Some	1
Generalized non-inflammatory peeling skin syndrome	Finding site	True	Entire skin	Inferred relationship	Some	1
Ichthyosis hystrix gravior (disorder)	Finding site	True	Entire skin	Inferred relationship	Some	1
Acquired ichthyosis due to paraneoplastic syndrome (disorder)	Finding site	True	Entire skin	Inferred relationship	Some	1
Total skin electron beam therapy	Procedure site - Direct (attribute)	True	Entire skin	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
280522019	Entire skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
564720017	Entire skin (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
163611000274112	Gesamte Haut	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module