FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

26996000: Hyperkeratosis (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
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

26 descendants. Search Descendants:

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
Diffuse palmoplantar keratoderma of Thost-Unna (disorder) Associated morphology True Hyperkeratosis Inferred relationship Some 1
Enucleation of corn Direct morphology False Hyperkeratosis Inferred relationship Some 1
Inflammatory hyperkeratotic dermatosis, chronic Associated morphology False Hyperkeratosis Inferred relationship Some 1
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 False Hyperkeratosis Inferred relationship Some 1
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 False Hyperkeratosis Inferred relationship Some 2
Palmar hyperkeratosis of yaws Associated morphology False Hyperkeratosis Inferred relationship Some 1
Acquired plantar keratoderma (disorder) Associated morphology True Hyperkeratosis Inferred relationship Some 1
Palmar callosity (disorder) Associated morphology True Hyperkeratosis Inferred relationship Some 1
Enucleation of corn Direct morphology True Hyperkeratosis Inferred relationship Some 2
Removal of corn sinus (procedure) Direct morphology True Hyperkeratosis Inferred relationship Some 2
Keratoderma areata Associated morphology False Hyperkeratosis Inferred relationship Some 4
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder) Associated morphology False Hyperkeratosis Inferred relationship Some 4
Keratoderma with mental retardation and spastic paraplegia Associated morphology False Hyperkeratosis Inferred relationship Some 4
Mutilating keratoderma Associated morphology False Hyperkeratosis Inferred relationship Some 4
Autosomal dominant mutilating keratoderma Associated morphology False Hyperkeratosis Inferred relationship Some 4
A hereditary palmoplantar keratoderma with characteristics of the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques. Associated morphology False Hyperkeratosis Inferred relationship Some 4
Congenital keratoderma Associated morphology True Hyperkeratosis Inferred relationship Some 4
Keratoderma with pachyonychia congenita Associated morphology False Hyperkeratosis Inferred relationship Some 4
Keratoderma punctata Associated morphology False Hyperkeratosis Inferred relationship Some 4
Leukoplakia of penis Associated morphology False Hyperkeratosis Inferred relationship Some 3
Epidermolytic palmoplantar keratoderma of Vorner Associated morphology True Hyperkeratosis Inferred relationship Some 1
Excessive keratinized residual ridge mucosa (finding) Associated morphology True Hyperkeratosis Inferred relationship Some 1
Keratoderma Associated morphology True Hyperkeratosis Inferred relationship Some 2
Minimal keratinized residual ridge mucosa (finding) Associated morphology True Hyperkeratosis Inferred relationship Some 1
Hereditary diffuse palmoplantar keratoderma (disorder) Associated morphology True Hyperkeratosis Inferred relationship Some 1
Hereditary palmoplantar keratoderma Associated morphology True Hyperkeratosis Inferred relationship Some 1
Focal hyperkeratosis Is a True Hyperkeratosis Inferred relationship Some
Punctate palmoplantar keratoderma (disorder) Associated morphology True Hyperkeratosis Inferred relationship Some 1
Palmoplantar keratoderma Associated morphology True Hyperkeratosis Inferred relationship Some 2
Keratoderma with deafness Associated morphology False Hyperkeratosis Inferred relationship Some 1
Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu (disorder) Associated morphology True Hyperkeratosis Inferred relationship Some 1
Palmar hyperkeratosis of yaws Associated morphology True Hyperkeratosis Inferred relationship Some 4
Plantar hyperkeratosis of yaws Associated morphology True Hyperkeratosis Inferred relationship Some 4
Hyperkeratosis of yaws (disorder) Associated morphology True Hyperkeratosis Inferred relationship Some 4
Palmar callosity (disorder) Associated morphology False Hyperkeratosis Inferred relationship Some 3
Cole disease Associated morphology False Hyperkeratosis Inferred relationship Some 3
Gonococcal keratosis Associated morphology True Hyperkeratosis Inferred relationship Some 4
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 6
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 False Hyperkeratosis Inferred relationship Some
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 False Hyperkeratosis Inferred relationship Some 4
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 False Hyperkeratosis Inferred relationship Some 4
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 False Hyperkeratosis Inferred relationship Some 4
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 False 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 False Hyperkeratosis Inferred relationship Some 7
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. Associated morphology False Hyperkeratosis 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. Associated morphology False 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 False Hyperkeratosis Inferred relationship Some 7
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 False Hyperkeratosis Inferred relationship Some 8
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 5
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 False Hyperkeratosis Inferred relationship Some 3
A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia. Associated morphology False Hyperkeratosis Inferred relationship Some 5
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 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 False 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 False Hyperkeratosis Inferred relationship Some 6
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 False Hyperkeratosis Inferred relationship Some 7
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 False Hyperkeratosis Inferred relationship Some 6
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 False Hyperkeratosis Inferred relationship Some 6
Callosity due to biting and/or chewing (disorder) Associated morphology False Hyperkeratosis Inferred relationship Some 2
Callosity Associated morphology True Hyperkeratosis Inferred relationship Some 2
Callosity on toe Associated morphology False Hyperkeratosis Inferred relationship Some 2
Callosity between toes Associated morphology True Hyperkeratosis Inferred relationship Some 2
Callosity under metatarsal head Associated morphology True Hyperkeratosis Inferred relationship Some 2
Senile keratoma Associated morphology False Hyperkeratosis Inferred relationship Some 2
Apical callus Associated morphology True Hyperkeratosis Inferred relationship Some 2
Foot callus Associated morphology True Hyperkeratosis Inferred relationship Some 2
Prayer nodule Associated morphology False Hyperkeratosis Inferred relationship Some 2
Diffuse callus Associated morphology True Hyperkeratosis Inferred relationship Some 2
Pinch callus Associated morphology True Hyperkeratosis Inferred relationship Some 2
Callosity on hand (disorder) Associated morphology False Hyperkeratosis Inferred relationship Some 2
Callosity resulting from occupation (disorder) Associated morphology True Hyperkeratosis Inferred relationship Some 2
Callosity due to habit tic (disorder) Associated morphology True Hyperkeratosis Inferred relationship Some 2
Callosity caused by prosthesis and/or appliance Associated morphology True Hyperkeratosis Inferred relationship Some 2
Plantar callosity (disorder) Associated morphology False Hyperkeratosis Inferred relationship Some 2
Pretalar callosity (disorder) Associated morphology False Hyperkeratosis Inferred relationship Some 2
Familial painful callosities (disorder) Associated morphology True Hyperkeratosis Inferred relationship Some 2
Callus of heel (disorder) Associated morphology True Hyperkeratosis Inferred relationship Some 2
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. Associated morphology False Hyperkeratosis Inferred relationship Some 7
Callosity due to biting and/or chewing (disorder) Associated morphology True Hyperkeratosis Inferred relationship Some 1
Onychophosis Associated morphology True Hyperkeratosis Inferred relationship Some 1
Hyperkeratosis of mucous membrane of mouth due to and following traumatic injury (disorder) Associated morphology True Hyperkeratosis Inferred relationship Some 6
Arsenical keratosis (disorder) Associated morphology False Hyperkeratosis Inferred relationship Some 1
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 1
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 1
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 4
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 2
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities. Associated morphology True Hyperkeratosis Inferred relationship Some 1
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 False Hyperkeratosis Inferred relationship Some 3
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. Associated morphology False Hyperkeratosis Inferred relationship Some 4
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 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 2
Hereditary benign acanthosis nigricans Associated morphology False Hyperkeratosis Inferred relationship Some 3
Acanthosis nigricans due to type 2 diabetes mellitus Associated morphology True Hyperkeratosis Inferred relationship Some 2
Hereditary benign acanthosis nigricans with insulin resistance Associated morphology False Hyperkeratosis Inferred relationship Some 3
Acanthosis palmaris Associated morphology True Hyperkeratosis Inferred relationship Some 1
Hereditary benign acanthosis nigricans Associated morphology True Hyperkeratosis Inferred relationship Some 2
Drug-induced acanthosis nigricans Associated morphology True Hyperkeratosis Inferred relationship Some 2
Acquired acanthosis nigricans Associated morphology True Hyperkeratosis Inferred relationship Some 1
Benign acanthosis nigricans Associated morphology True Hyperkeratosis Inferred relationship Some 2
Hereditary benign acanthosis nigricans with insulin resistance Associated morphology True Hyperkeratosis Inferred relationship Some 1
Malignant acanthosis nigricans Associated morphology False Hyperkeratosis Inferred relationship Some 2
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

Start Previous Page 3 of 6 Next End

This concept is not in any reference sets

Back to Start