39937001: Skin structure (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).\Skin structure

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

\Body region structure\Skin and/or subcutaneous tissue structure (body structure)\Skin 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
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	partie de	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	Region consisting of all body skin and directly related mucosa but excluding mucosa within the body such as the mucous membrane of the urinary bladder.	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Relapsing fever of Southwest U.S. AND/OR Mexico	Finding site	True	Skin structure	Inferred relationship	Some	1
Kaposi's varicelliform eruption caused by Vaccinia virus (disorder)	Finding site	True	Skin structure	Inferred relationship	Some	1
Eczema vaccinatum	Finding site	True	Skin structure	Inferred relationship	Some	1
Cutaneous tuberculous gumma	Finding site	True	Skin structure	Inferred relationship	Some	1
Pinta, late lesion	Finding site	True	Skin structure	Inferred relationship	Some	1
Lepromatous leprosy	Finding site	True	Skin structure	Inferred relationship	Some	1
Vaccination site vaccinia (disorder)	Finding site	True	Skin structure	Inferred relationship	Some	1
Lepromatous anterior uveitis (disorder)	Finding site	False	Skin structure	Inferred relationship	Some	1
Mixed pinta lesions	Finding site	False	Skin structure	Inferred relationship	Some	1
Multidermatomal infection caused by Herpes zoster co-occurrent with human immunodeficiency virus infection (disorder)	Finding site	False	Skin structure	Inferred relationship	Some	2
Progressive vaccina	Finding site	True	Skin structure	Inferred relationship	Some	1
Diffuse lepromatous leprosy	Finding site	True	Skin structure	Inferred relationship	Some	1
Pinta	Finding site	True	Skin structure	Inferred relationship	Some	1
Human herpes virus 8 infection of skin (disorder)	Finding site	True	Skin structure	Inferred relationship	Some	1
Generalized vaccinia	Finding site	True	Skin structure	Inferred relationship	Some	1
Vaccinia	Finding site	True	Skin structure	Inferred relationship	Some	1
Skin structure of multiple topographic sites (body structure)	Is a	True	Skin structure	Inferred relationship	Some
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.	Finding site	True	Skin structure	Inferred relationship	Some	3
Pseudomonas septicemia with skin involvement	Finding site	False	Skin structure	Inferred relationship	Some	1
Indeterminate leprosy	Finding site	True	Skin structure	Inferred relationship	Some	1
Tuberculoid leprosy	Finding site	True	Skin structure	Inferred relationship	Some	1
Neural type tuberculoid leprosy	Finding site	True	Skin structure	Inferred relationship	Some	1
Secondary syphilis of skin	Finding site	True	Skin structure	Inferred relationship	Some	1
Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.	Finding site	False	Skin structure	Inferred relationship	Some	1
Human herpes virus 6 infection of skin (disorder)	Finding site	True	Skin structure	Inferred relationship	Some	1
PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.	Finding site	True	Skin structure	Inferred relationship	Some	4
Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrythmias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.	Finding site	True	Skin structure	Inferred relationship	Some	1
Disseminated cutaneous mycosis (disorder)	Finding site	True	Skin structure	Inferred relationship	Some	1
Cutaneous alternariosis	Finding site	True	Skin structure	Inferred relationship	Some	1
Dermatomycosis with AIDS (acquired immunodeficiency syndrome)	Finding site	True	Skin structure	Inferred relationship	Some	1
Disseminated cutaneous mycosis caused by Fusarium (disorder)	Finding site	True	Skin structure	Inferred relationship	Some	1
Disseminated cutaneous mycosis due to Trichosporon	Finding site	True	Skin structure	Inferred relationship	Some	1
Cutaneous hyalohyphomycosis	Finding site	True	Skin structure	Inferred relationship	Some	1
acladiose	Finding site	False	Skin structure	Inferred relationship	Some	1
Cutaneous paracoccioidomycosis (disorder)	Finding site	True	Skin structure	Inferred relationship	Some	1
Malassezia infection of skin (disorder)	Finding site	True	Skin structure	Inferred relationship	Some	1
Disseminated cutaneous mycosis caused by Penicillium	Finding site	True	Skin structure	Inferred relationship	Some	1
Fungal infection of skin.	Finding site	True	Skin structure	Inferred relationship	Some	1
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.	Finding site	True	Skin structure	Inferred relationship	Some	1
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	True	Skin structure	Inferred relationship	Some	2
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome.	Finding site	True	Skin structure	Inferred relationship	Some	2
A rare malformation syndrome characterized by generalized multiple steatocystomas and natal teeth.	Finding site	False	Skin structure	Inferred relationship	Some	1
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.	Finding site	True	Skin structure	Inferred relationship	Some	2
Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.	Finding site	True	Skin structure	Inferred relationship	Some	2
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.	Finding site	True	Skin structure	Inferred relationship	Some	5
A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungual hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrimal punctum may be occasionally absent. There have been no further descriptions in the literature since 1975.	Finding site	True	Skin structure	Inferred relationship	Some	1
Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.	Finding site	True	Skin structure	Inferred relationship	Some	2
Cutis gyrata syndrome of Beare and Stevenson	Finding site	True	Skin structure	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	False	Skin structure	Inferred relationship	Some	1
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	True	Skin structure	Inferred relationship	Some	1
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	True	Skin structure	Inferred relationship	Some	2
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections	Finding site	True	Skin 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	True	Skin 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	Skin structure	Inferred relationship	Some	1
Primary cutaneous coccidioidomycosis	Finding site	True	Skin structure	Inferred relationship	Some	1
The patients are born with hair that falls out and is not replaced. Histologic studies show malformation of the hair follicles. Papillary lesions over most of the body and almost complete absence of hair are features.	Finding site	True	Skin structure	Inferred relationship	Some	1
Centripetalis recessive dystrophic epidermolysis bullosa (disorder)	Finding site	True	Skin structure	Inferred relationship	Some	1
A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).	Finding site	True	Skin structure	Inferred relationship	Some	1
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978.	Finding site	True	Skin structure	Inferred relationship	Some	2
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959.	Finding site	True	Skin structure	Inferred relationship	Some	2
Ichthyosis cheek eyebrow syndrome (disorder)	Finding site	False	Skin structure	Inferred relationship	Some	1
Cavernous lymphangioma of skin	Finding site	False	Skin structure	Inferred relationship	Some	2
A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995.	Finding site	True	Skin structure	Inferred relationship	Some	1
Disseminated cutaneous coccidioidomycosis (disorder)	Finding site	True	Skin 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	True	Skin structure	Inferred relationship	Some	1
A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.	Finding site	False	Skin structure	Inferred relationship	Some	1
Cutaneous coccidioidomycosis	Finding site	True	Skin structure	Inferred relationship	Some	1
A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected.	Finding site	True	Skin structure	Inferred relationship	Some	1
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.	Finding site	False	Skin structure	Inferred relationship	Some	4
A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.	Finding site	True	Skin structure	Inferred relationship	Some	1
A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.	Finding site	True	Skin structure	Inferred relationship	Some	1
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility.	Finding site	True	Skin structure	Inferred relationship	Some	1
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	3
A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature.	Finding site	True	Skin structure	Inferred relationship	Some	1
Ash leaf spot, tuberous sclerosis (disorder)	Finding site	True	Skin structure	Inferred relationship	Some	1
A rare genetic ectodermal dysplasia syndrome characterised by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence.	Finding site	True	Skin structure	Inferred relationship	Some	4
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.	Finding site	True	Skin structure	Inferred relationship	Some	4
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported.	Finding site	False	Skin structure	Inferred relationship	Some	1
A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.	Finding site	False	Skin structure	Inferred relationship	Some	4
Geroderma osteodysplastica	Finding site	True	Skin structure	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis, and nail abnormalities. There have been no further descriptions in the literature since 1993.	Finding site	True	Skin structure	Inferred relationship	Some	2
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	True	Skin structure	Inferred relationship	Some	1
Junctional epidermolysis bullosa non-Herlitz type (disorder)	Finding site	True	Skin structure	Inferred relationship	Some	1
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.	Finding site	True	Skin structure	Inferred relationship	Some	2
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.	Finding site	True	Skin structure	Inferred relationship	Some	3
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported.	Finding site	False	Skin structure	Inferred relationship	Some	4
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	False	Skin structure	Inferred relationship	Some	2
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	True	Skin structure	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	False	Skin structure	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	False	Skin structure	Inferred relationship	Some	1
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	True	Skin structure	Inferred relationship	Some	1
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	True	Skin structure	Inferred relationship	Some	2
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	False	Skin structure	Inferred relationship	Some	3
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.	Finding site	True	Skin structure	Inferred relationship	Some	1
Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.	Finding site	True	Skin structure	Inferred relationship	Some	1
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.	Finding site	True	Skin structure	Inferred relationship	Some	5
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	False	Skin structure	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	False	Skin structure	Inferred relationship	Some	1
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.	Finding site	True	Skin structure	Inferred relationship	Some	1
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4	Finding site	False	Skin structure	Inferred relationship	Some	3
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	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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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
274021000077119	structure de la peau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
922751000172111	peau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
946531000172113	cutis	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module