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263654008: Abnormal (qualifier value)

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
391916010 Abnormal en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
655800016 Abnormal (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
139711000077111 anormal fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2337331000195117 Abnorm de Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2337341000195113 Auffällig de Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Abnormal Is a Normality findings true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Follicular hyperkeratosis Has interpretation False Abnormal Inferred relationship Some 2
Acanthosis nigricans of oral mucous membranes (disorder) Has interpretation True Abnormal Inferred relationship Some 1
Retention hyperkeratosis (disorder) Has interpretation False Abnormal Inferred relationship Some 1
Retention hyperkeratosis due to neglect Has interpretation False Abnormal Inferred relationship Some 1
Desquamation of skin following febrile illness (disorder) Has interpretation True Abnormal Inferred relationship Some 1
Drug-induced desquamation of skin (disorder) Has interpretation True Abnormal Inferred relationship Some 1
Desquamation secondary to acute systemic illness (disorder) Has interpretation True Abnormal Inferred relationship Some 1
Acanthosis nigricans (disorder) Has interpretation True Abnormal Inferred relationship Some 1
Xeroderma in genetic syndrome (disorder) Has interpretation False Abnormal Inferred relationship Some 1
Punctate palmoplantar keratoderma (disorder) Has interpretation False Abnormal Inferred relationship Some 2
Lichenoid actinic keratosis (disorder) Has interpretation False Abnormal Inferred relationship Some 1
Acantholytic actinic keratosis (disorder) Has interpretation False Abnormal Inferred relationship Some 1
Atrophic actinic keratosis (disorder) Has interpretation False Abnormal Inferred relationship Some 1
Proliferative actinic keratosis (disorder) Has interpretation False Abnormal Inferred relationship Some 1
Multiple actinic keratoses (disorder) Has interpretation False Abnormal Inferred relationship Some 1
Multiple actinic keratoses involving scalp (disorder) Has interpretation False Abnormal Inferred relationship Some 2
Multiple actinic keratoses involving face (disorder) Has interpretation False Abnormal Inferred relationship Some 2
Multiple actinic keratoses involving forehead and temples (disorder) Has interpretation False Abnormal Inferred relationship Some 1
Multiple actinic keratoses involving hands (disorder) Has interpretation False Abnormal Inferred relationship Some 2
Multiple actinic keratoses involving lower limbs (disorder) Has interpretation False Abnormal Inferred relationship Some 2
Diffuse actinic hyperkeratosis (disorder) Has interpretation False Abnormal Inferred relationship Some 1
Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu (disorder) Has interpretation False Abnormal Inferred relationship Some 2
Pachyonychia congenita type II of Jackson-Lawler (disorder) Has interpretation False Abnormal Inferred relationship Some 2
Pachyonychia congenita type III of Schafer-Brunauer (disorder) Has interpretation False Abnormal Inferred relationship Some 2
Actinic keratosis of eyelid (disorder) Has interpretation False Abnormal Inferred relationship Some 2
Pigmented actinic keratosis (disorder) Has interpretation False Abnormal Inferred relationship Some 1
Hyperkeratotic actinic keratosis Has interpretation False Abnormal Inferred relationship Some 1
Slightly pigmented smooth or warty papules that are flesh colored and found on the upper surface of hands and feet. Has interpretation False Abnormal Inferred relationship Some 2
Severe achondrolasia with developmental delay and acanthosis nigricans Has interpretation False Abnormal Inferred relationship Some 4
Xeroderma of lower eyelid Has interpretation False Abnormal Inferred relationship Some 1
Xeroderma of upper eyelid Has interpretation False Abnormal Inferred relationship Some 1
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance. Has interpretation True Abnormal Inferred relationship Some 1
Congenital reticular ichthyosiform erythroderma (disorder) Has interpretation True Abnormal Inferred relationship Some 1
Palmoplantar keratoderma Has interpretation False Abnormal Inferred relationship Some 1
Keratoderma Has interpretation False Abnormal Inferred relationship Some 1
Formation of an epidermal layer which lacks nuclei during normal keratinization. Has interpretation False Abnormal Inferred relationship Some 1
Cole disease Has interpretation False Abnormal 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. Has interpretation False Abnormal Inferred relationship Some 1
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. Has interpretation False Abnormal 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. Has interpretation False Abnormal Inferred relationship Some 1
This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. Has interpretation True Abnormal Inferred relationship Some 3
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. Has interpretation True Abnormal Inferred relationship Some 1
Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. Has interpretation True Abnormal 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. Has interpretation False Abnormal 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. Has interpretation False Abnormal 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. Has interpretation True Abnormal 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. Has interpretation False Abnormal Inferred relationship Some 3
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. Has interpretation False Abnormal Inferred relationship Some 7
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. Has interpretation False Abnormal Inferred relationship Some 2
Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement. Has interpretation False Abnormal Inferred relationship Some 3
Abnormal color Has interpretation True Abnormal Inferred relationship Some 1
Discoloration of spleen Has interpretation True Abnormal Inferred relationship Some 1
Gastrointestinal tract mucosal discoloration Has interpretation True Abnormal Inferred relationship Some 1
Arsenical keratosis (disorder) Has interpretation False Abnormal Inferred relationship Some 4
Superficial keratosis Has interpretation False Abnormal Inferred relationship Some 2
Sputum abnormal - amount Has interpretation True Abnormal Inferred relationship Some 1
Sputum abnormal - odor Has interpretation True Abnormal 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. Has interpretation False Abnormal Inferred relationship Some 2
Bleeding between periods (finding) Has interpretation True Abnormal Inferred relationship Some 1
Tar keratosis (disorder) Has interpretation False Abnormal Inferred relationship Some 1
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. Has interpretation False Abnormal Inferred relationship Some 2
Congenital keratoderma Has interpretation True Abnormal Inferred relationship Some 2
Ovulation bleeding Has interpretation True Abnormal Inferred relationship Some 1
Disseminated superficial porokeratosis Has interpretation True Abnormal Inferred relationship Some 2
Ulerythema ophryogenes (disorder) Has interpretation True Abnormal Inferred relationship Some 3
Metropathia hemorrhagica Has interpretation True Abnormal Inferred relationship Some 1
Keratosis caused by radiation Has interpretation False Abnormal Inferred relationship Some 1
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. Has interpretation False Abnormal 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. Has interpretation False Abnormal Inferred relationship Some 3
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. Has interpretation True Abnormal 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. Has interpretation False Abnormal Inferred relationship Some 3
Break-through bleeding Has interpretation True Abnormal Inferred relationship Some 1
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. Has interpretation False Abnormal Inferred relationship Some 2
Menometrorrhagia Has interpretation True Abnormal Inferred relationship Some 1
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Has interpretation False Abnormal 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. Has interpretation True Abnormal Inferred relationship Some 2
Linear porokeratosis Has interpretation True Abnormal Inferred relationship Some 2
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Has interpretation True Abnormal 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. Has interpretation False Abnormal Inferred relationship Some 2
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome. Has interpretation False Abnormal 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. Has interpretation False Abnormal Inferred relationship Some 2
Irregular intermenstrual bleeding Has interpretation True Abnormal Inferred relationship Some 1
A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. Has interpretation True Abnormal Inferred relationship Some 3
Intermenstrual spotting caused by intrauterine device Has interpretation True Abnormal Inferred relationship Some 1
Anovular menstruation Has interpretation True Abnormal Inferred relationship Some 1
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. Has interpretation True Abnormal Inferred relationship Some 2
Acral peeling skin syndrome Has interpretation True Abnormal Inferred relationship Some 2
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959. Has interpretation False Abnormal Inferred relationship Some 4
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. Has interpretation False Abnormal Inferred relationship Some 2
Intermenstrual bleeding - regular Has interpretation True Abnormal Inferred relationship Some 1
Cutaneous horn (disorder) Has interpretation False Abnormal Inferred relationship Some 1
A group of rare autosomal recessive forms of ichthyosis clinically characterized by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution for generalized PSS type A (noninflammatory) or B (inflammatory). Has interpretation True Abnormal Inferred relationship Some 3
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. Has interpretation False Abnormal Inferred relationship Some 7
A rare genetic disease which is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually spread to other body zones. Has interpretation True Abnormal Inferred relationship Some 3
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. Has interpretation False Abnormal Inferred relationship Some 3
Hyperkeratosis of mucous membrane of mouth due to and following traumatic injury (disorder) Has interpretation False Abnormal Inferred relationship Some 2
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. Has interpretation False Abnormal Inferred relationship Some 3
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. Has interpretation True Abnormal Inferred relationship Some 2
Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. Has interpretation False Abnormal Inferred relationship Some 3
Skin appearance abnormal Has interpretation True Abnormal Inferred relationship Some 1
Empty delta sign Has interpretation True Abnormal Inferred relationship Some 1

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