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
Palmoplantar keratoderma with leukoplakia	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
Porokeratosis of Mibelli, superficial disseminated type	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	6
Papillon-Lefèvre syndrome	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Papillon-Lefèvre syndrome	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
Diffuse palmoplantar keratoderma of Thost-Unna (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Hereditary diffuse palmoplantar keratoderma (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Retention hyperkeratosis (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Retention hyperkeratosis due to neglect	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	1
Punctate palmoplantar keratoderma (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Superficial keratosis	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	1
Pretalar callosity (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Cutaneous horn (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Callosity on hand (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Acquired palmoplantar keratoderma (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Plantar callosity (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Follicular atrophoderma with palmoplantar hyperkeratosis (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
Follicular atrophoderma with palmoplantar hyperkeratosis (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Keratosis caused by radiation	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Tar keratosis (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Keratoderma blennorrhagicum (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Hidrotic ectodermal dysplasia syndrome	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
Hidrotic ectodermal dysplasia syndrome	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Cole disease	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Cole disease	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Formation of an epidermal layer which lacks nuclei during normal keratinization.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Slightly pigmented smooth or warty papules that are flesh colored and found on the upper surface of hands and feet.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Slightly pigmented smooth or warty papules that are flesh colored and found on the upper surface of hands and feet.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Palmoplantar keratoderma	Associated morphology	True	Hyperkeratosis	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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	4
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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
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	5
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	4
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	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.	Associated morphology	True	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	3
A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	5
A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
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	4
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	3
Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	5
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
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	3
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	4
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	3
A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma.	Associated morphology	False	Hyperkeratosis	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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	2
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive.	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	6
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	5
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	3
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	3
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	3
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	4
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	7
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	8
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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	8
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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	7
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.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	4
Wooly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
Wooly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	4
Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopathologically, widened intercellular spaces between keratinocytes are observed.	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	3
Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopathologically, widened intercellular spaces between keratinocytes are observed.	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	2
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	8
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	7
Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections (spiny keratosis) on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.	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	False	Hyperkeratosis	Inferred relationship	Some	6
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	5
Porokeratosis of Mibelli, linear unilateral type	Associated morphology	False	Hyperkeratosis	Inferred relationship	Some	6
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	3
Arsenical keratosis	Is a	True	Hyperkeratosis	Inferred relationship	Some
Psoralen and long-wave ultraviolet radiation keratosis (morphologic abnormality)	Is a	True	Hyperkeratosis	Inferred relationship	Some
Rough skin (finding)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex (disorder)	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Rough skin of hands	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	5
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	6
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	4
A rare congenital ectodermal disorder characterised by vascularising keratitis, hyperkeratotic skin lesions and hearing loss.	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
Lymphoedematous hyperkeratosis	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Keratosis	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Hyperkeratotic eczema of palms and soles	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	4
Hyperkeratotic eczema of soles	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
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	1
Ulerythema of cheeks	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	4
Harlequin fetus	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	1
Hyperkeratotic eczema of palms	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
Hyperkeratotic fissured eczema of palms	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	3
Hyperkeratotic eczema of palms and soles	Associated morphology	True	Hyperkeratosis	Inferred relationship	Some	5

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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