39937001: Skin structure (body structure)

SNOMED CT Concept\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 (body 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	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
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex characterized by generalized superficial erosions and less commonly blistering.	Finding site	False	Skin structure	Inferred relationship	Some	4
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	Skin structure	Inferred relationship	Some	3
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	Skin structure	Inferred relationship	Some	4
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	Skin structure	Inferred relationship	Some	5
Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis.	Finding site	True	Skin structure	Inferred relationship	Some	2
Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.	Finding site	True	Skin structure	Inferred relationship	Some	1
A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype.	Finding site	True	Skin structure	Inferred relationship	Some	2
A variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.	Finding site	True	Skin structure	Inferred relationship	Some	1
Oral pemphigoid of gingival mucous membrane (disorder)	Finding site	False	Skin structure	Inferred relationship	Some	3
Juvenile dermatomyositis co-occurrent with respiratory involvement (disorder)	Finding site	False	Skin structure	Inferred relationship	Some	3
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	Skin structure	Inferred relationship	Some	6
A rare isolated diffuse palmoplantar keratoderma characterized by diffuse, homogeneous, mild to thick, brown-to-yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers). Skin biopsy shows non-epidermolytic changes. There are no changes in hair, teeth or nails, and no syndromic involvement of other organs.	Finding site	False	Skin structure	Inferred relationship	Some	3
A rare isolated diffuse palmoplantar keratoderma characterized by diffuse, homogeneous, mild to thick, brown-to-yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers). Skin biopsy shows non-epidermolytic changes. There are no changes in hair, teeth or nails, and no syndromic involvement of other organs.	Finding site	False	Skin structure	Inferred relationship	Some	4
Basal cell carcinoma of skin in situ (disorder)	Finding site	True	Skin structure	Inferred relationship	Some	1
hudundersøgelse: i.a.	Finding site	False	Skin structure	Inferred relationship	Some	1
Abnormal flushing and sweating (finding)	Finding site	True	Skin structure	Inferred relationship	Some	1
Cutaneous B-cell pseudolymphoma caused by Borrelia (disorder)	Finding site	True	Skin structure	Inferred relationship	Some	2
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	False	Skin structure	Inferred relationship	Some	4
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	False	Skin structure	Inferred relationship	Some	1
Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).	Finding site	False	Skin structure	Inferred relationship	Some	9
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	False	Skin structure	Inferred relationship	Some	10
Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).	Finding site	True	Skin structure	Inferred relationship	Some	5
Skin ulcer due to type 2 diabetes mellitus	Finding site	True	Skin structure	Inferred relationship	Some	2
Extreme sensitivity to tickling.	Finding site	True	Skin structure	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	Skin structure	Inferred relationship	Some	2
A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.	Finding site	False	Skin structure	Inferred relationship	Some	3
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.	Finding site	False	Skin structure	Inferred relationship	Some	7
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.	Finding site	False	Skin structure	Inferred relationship	Some	8
Perifollicular petechiae of skin (disorder)	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	4
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	5
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	4
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	5
Sparse hair with short stature and skin anomaly syndrome	Finding site	False	Skin structure	Inferred relationship	Some	3
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	False	Skin structure	Inferred relationship	Some	5
A rare malformation syndrome characterized by generalized multiple steatocystomas and natal teeth.	Finding site	False	Skin structure	Inferred relationship	Some	5
A form of junctional epidermolysis bullosa characterized by onset in childhood or young adulthood of blistering that first occurs around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, and knees. Lesions heal with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries.	Finding site	False	Skin structure	Inferred relationship	Some	3
A form of junctional epidermolysis bullosa characterized by onset in childhood or young adulthood of blistering that first occurs around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, and knees. Lesions heal with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries.	Finding site	False	Skin structure	Inferred relationship	Some	4
Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.	Finding site	False	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	False	Skin structure	Inferred relationship	Some	8
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.	Finding site	False	Skin structure	Inferred relationship	Some	8
A rare malformation syndrome characterized by generalized multiple steatocystomas and natal teeth.	Finding site	False	Skin structure	Inferred relationship	Some	4
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.	Finding site	False	Skin structure	Inferred relationship	Some	7
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	False	Skin structure	Inferred relationship	Some	11
Congenital oculocutaneous hypopigmentation	Finding site	False	Skin structure	Inferred relationship	Some	4
A rare developmental defect during embryogenesis characterized by congenital lipomatous overgrowth, complex and progressive combined vascular malformations affecting the trunk, and epidermal nevi.	Finding site	True	Skin structure	Inferred relationship	Some	4
A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.	Finding site	False	Skin structure	Inferred relationship	Some	2
A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.	Finding site	False	Skin structure	Inferred relationship	Some
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	False	Skin structure	Inferred relationship	Some	6
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.	Finding site	False	Skin structure	Inferred relationship	Some	8
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	False	Skin structure	Inferred relationship	Some	5
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	False	Skin structure	Inferred relationship	Some	6
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	False	Skin structure	Inferred relationship	Some	8
Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.	Finding site	False	Skin structure	Inferred relationship	Some	2
A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993.	Finding site	True	Skin structure	Inferred relationship	Some	3
Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.	Finding site	False	Skin structure	Inferred relationship	Some	4
Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.	Finding site	False	Skin structure	Inferred relationship	Some	5
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.	Finding site	False	Skin structure	Inferred relationship	Some	4
objektivt: paræstesi påvist	Finding site	False	Skin structure	Inferred relationship	Some
klager over paræstesi	Finding site	False	Skin structure	Inferred relationship	Some
Paresthesia of lower extremity (finding)	Finding site	False	Skin structure	Inferred relationship	Some
This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.	Finding site	False	Skin structure	Inferred relationship	Some	4
Inflammation of skin adjacent to an infectious site by autoinoculation; appears as eczematous plaque with or without vesicles.	Finding site	False	Skin structure	Inferred relationship	Some	2
This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families.	Finding site	False	Skin structure	Inferred relationship	Some	5
A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993.	Finding site	False	Skin structure	Inferred relationship	Some	5
Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.	Finding site	False	Skin structure	Inferred relationship	Some	3
Irritant contact dermatitis of female genitalia (disorder)	Finding site	False	Skin structure	Inferred relationship	Some	3
Contact dermatitis of female genitalia (disorder)	Finding site	False	Skin structure	Inferred relationship	Some	3
A rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion.	Finding site	True	Skin structure	Inferred relationship	Some	1
A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.	Finding site	False	Skin structure	Inferred relationship	Some	4
Epidermodysplasia verruciformis	Finding site	True	Skin structure	Inferred relationship	Some	1
Digitate wart	Finding site	False	Skin structure	Inferred relationship	Some	2
Plane wart	Finding site	False	Skin structure	Inferred relationship	Some	2
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	False	Skin structure	Inferred relationship	Some	4
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	False	Skin structure	Inferred relationship	Some	5
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	False	Skin structure	Inferred relationship	Some	9
A rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurrent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.	Finding site	False	Skin structure	Inferred relationship	Some	3
A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993.	Finding site	False	Skin structure	Inferred relationship	Some
Ehlers-Danlos syndrome with periventricular heterotopia	Finding site	False	Skin structure	Inferred relationship	Some	6
Ehlers-Danlos syndrome vascular-like type	Finding site	False	Skin structure	Inferred relationship	Some	3
A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.	Finding site	False	Skin structure	Inferred relationship	Some	5
A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.	Finding site	False	Skin structure	Inferred relationship	Some
A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair including marked circumareolar hypertrichosis). There have been no further descriptions in the literature since 1989.	Finding site	False	Skin structure	Inferred relationship	Some
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.	Finding site	False	Skin structure	Inferred relationship	Some	5
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet.	Finding site	True	Skin structure	Inferred relationship	Some	4
A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency.	Finding site	True	Skin structure	Inferred relationship	Some	3
A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.	Finding site	True	Skin structure	Inferred relationship	Some	4
A rare ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.	Finding site	False	Skin structure	Inferred relationship	Some	8
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	7
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	8
A rare systemic disease characterized by congenital multiple contractures, characteristic craniofacial features (like large fontanel, hypertelorism, downslanting palpebral fissures, blue sclerae, ear deformities, high palate) evident at birth or in early infancy, and characteristic cutaneous features like skin hyperextensibility, skin fragility with atrophic scars, easy bruising, and increased palmar wrinkling. Additional features include recurrent/chronic dislocations, chest and spinal deformities, peculiarly shaped fingers, colonic diverticula, pneumothorax, and urogenital and ophthalmological abnormalities, among others. Molecular testing is obligatory to confirm the diagnosis.	Finding site	False	Skin structure	Inferred relationship	Some	7
Ehlers-Danlos syndrome vascular-like type	Finding site	False	Skin structure	Inferred relationship	Some	4
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet.	Finding site	False	Skin structure	Inferred relationship	Some	6
Allergic contact dermatitis of left upper eyelid (disorder)	Finding site	False	Skin structure	Inferred relationship	Some	7
Allergic contact dermatitis of right upper eyelid (disorder)	Finding site	False	Skin structure	Inferred relationship	Some	6
Xanthelasma (disorder)	Finding site	False	Skin structure	Inferred relationship	Some	1
Gastric xanthoma (disorder)	Finding site	False	Skin structure	Inferred relationship	Some	2
Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents.	Finding site	False	Skin structure	Inferred relationship	Some
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	False	Skin structure	Inferred relationship	Some	6
A rare ectodermal dysplasia syndrome characterized by a variably severe clinical picture comprising dry, thin skin, onychodysplasia, trichodysplasia, and dental abnormalities (such as hypodontia, microdontia, and persistence of deciduous teeth). There have been no further descriptions in the literature since 1990.	Finding site	False	Skin structure	Inferred relationship	Some	3
Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterized by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.	Finding site	False	Skin structure	Inferred relationship	Some	3

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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
4249211000005115	hudstruktur	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)