26996000: Hyperkeratosis (morphologic abnormality)

SNOMED CT Concept\Body structure (body structure)\Morphologically altered structure\Morphologically abnormal structure\Growth alteration\Hyperplasia\Hyperkeratosis

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
Hyperkeratosis	Is a	Hyperplasia	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	4
A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Porokeratosis of Mibelli	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	3
Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterised by severe intellectual disability with significant speech and language impairment, hypohidrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
A rare ophthalmic disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhinitis, dyshidrosis and/or nail thickening.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Autosomal recessive ichthyosis (disorder)	Associated morphology	True	Hyperkeratosis	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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Non-bullous ichthyosiform erythroderma	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	1
Congenital ichthyosis of skin	Associated morphology	True	Hyperkeratosis	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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Bullous ichthyosis	Associated morphology	False	Hyperkeratosis	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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
Bullous ichthyosiform erythroderma	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Cutaneous syndrome with ichthyosis	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Follicular ichthyosis	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	3
Senter syndrome	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Ichthyosis bullosa of Siemens	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
A rare type of keratinopathic ichthyosis characterised by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma. The skin is usually normal at birth. The disease starts in early childhood with severe hyperkeratosis of yellow-brown or grey colour, and of spiky, cobblestone-like (hystrix) or verrucous appearance. Contrary to other keratinopathic ichthyoses, no skin fragility/blister formation or erythroderma is present. The disease results from heterozygous frameshift mutation in a section of the KRT1 gene encoding keratin 1 (K1). These mutations lead to an abnormal supramolecular organisation of keratin intermediate filaments and may be related to defects in cytoplasmic trafficking and integrity of cellular structures such as organelles and nucleus. Transmission is autosomal dominant but some sporadic cases have been reported.	Associated morphology	True	Hyperkeratosis	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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Ichthyosis cheek eyebrow syndrome (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Autosomal dominant ichthyosis vulgaris	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Ichthyosis hystrix Bäfverstedt type (disorder)	Associated morphology	True	Hyperkeratosis	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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Ichthyosis hystrix	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Ichthyosis hystrix gravior of Rheydt	Associated morphology	False	Hyperkeratosis	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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
Hystrix ichthyosis with deafness	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	1
Ichthyosis congenita with biliary atresia	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Porcupine man	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	1
Keratinopathic ichthyosis (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
A rare congenital ectodermal disorder characterised by vascularising keratitis, hyperkeratotic skin lesions and hearing loss.	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	1
Netherton syndrome	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Atypical ichthyosis vulgaris with hypogonadism	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
X-linked ichthyosis with steryl-sulfatase deficiency	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Proliferative hyperkeratosis	Is a	True	Hyperkeratosis	Inferred relationship	Some
érythrokératodermie, trichorrhexie noueuse et dermatite atopique	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	1
Ichthyosis linearis circumflexa	Associated morphology	True	Hyperkeratosis	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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Congenital non bullous ichthyosiform erythroderma (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Sjögren-Larsson syndrome (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Ichthyosis, cerebellar degeneration and hepatosplenomegaly (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Harlequin ichthyosis	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Ichthyosis vulgaris	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Localised bullous ichthyosiform erythroderma	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Ichthyosis follicularis with alopecia and photophobia (IFAP)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Severe ichthyoses	Associated morphology	True	Hyperkeratosis	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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Autosomal dominant ichthyosis (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Rud's syndrome	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
Congenital cataract ichthyosis syndrome	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
A rare, genetic, isolated palmoplantar keratoderma characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
A rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
A rare, genetic, isolated palmoplantar keratoderma characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Inflammatory hyperkeratotic dermatosis, chronic	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	2
Inflammatory hyperkeratotic dermatosis, isomorphous	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	2
Inflammatory hyperkeratotic dermatosis, annular	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	2
Inflammatory hyperkeratotic dermatosis, plaque	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	2
Inflammatory hyperkeratotic dermatosis, generalized exfoliative	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	2
Inflammatory hyperkeratotic dermatosis	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Acquired ichthyosis	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Ichthyosis	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Senile ichthyosis	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
A rare, genetic punctate palmoplantar keratoderma disease characterized by discrete, focal, punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Haber's syndrome	Associated morphology	True	Hyperkeratosis	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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
A rare, genetic, isolated, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratosis or plantar hyperhidrosis.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection.	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	2
A rare punctate palmoplantar keratoderma characterized by multiple small, round to oval or rhomboid, yellowish, hyperkeratotic papules and plaques most commonly localized to the palms of the hands and soles of the feet, potentially extending to the dorsum of the hands and feet in severe cases. Histopathological analysis shows hyperkeratosis, epidermal hypertrophy, and fragmentation and rarefaction of elastic fibers. The condition can be sporadic or familial.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
A rare punctate palmoplantar keratoderma characterized by multiple small, round to oval or rhomboid, yellowish, hyperkeratotic papules and plaques most commonly localized to the palms of the hands and soles of the feet, potentially extending to the dorsum of the hands and feet in severe cases. Histopathological analysis shows hyperkeratosis, epidermal hypertrophy, and fragmentation and rarefaction of elastic fibers. The condition can be sporadic or familial.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	4
Porokeratosis of Mibelli, plaque type	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	6
Keratoderma areata	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	3
Symmetrical keratoderma	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Keratoderma climactericum	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	2
Sublingual keratosis	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Callosity on toe	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Oral frictional keratosis	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Mutilating keratoderma	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
Prayer nodule	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Multiple minute digitate hyperkeratosis of Goldstein	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Pityriasis rotunda	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Autosomal dominant mutilating keratoderma	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	3
Epidermolytic palmoplantar keratoderma of Vorner	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
A hereditary palmoplantar keratoderma with characteristics of the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
Keratoderma with pachyonychia congenita	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	3
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
Papuloverrucous palmoplantar keratoderma of Jakac-Wolf	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Hereditary palmoplantar keratoderma	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Palmoplantar keratoderma with leukoplakia	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3

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Id	Description	Lang	Type	Status	Case?	Module
45144017	Hyperkeratosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
45145016	Keratosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
45148019	Excessive cornification	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
45149010	Skin callus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
45150010	Callosity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
45151014	Keratoma	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
45152019	Tyloma	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
45153012	Tylosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
757512010	Hyperkeratosis (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6990271000241111	hyperkératose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module