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400123002: Hereditary diffuse palmoplantar keratoderma (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1768043015 Hereditary diffuse palmoplantar keratoderma (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1779381013 Hereditary diffuse palmoplantar keratoderma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1787106012 Diffuse palmoplantar keratoderma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5258181000241114 kératodermie palmoplantaire diffuse héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


25 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary diffuse palmoplantar keratoderma (disorder) Is a Hereditary palmoplantar keratoderma true Inferred relationship Some
Hereditary diffuse palmoplantar keratoderma (disorder) Associated morphology anomalie congénitale false Inferred relationship Some 1
Hereditary diffuse palmoplantar keratoderma (disorder) Has definitional manifestation Abnormal keratinization false Inferred relationship Some
Hereditary diffuse palmoplantar keratoderma (disorder) Finding site Skin structure false Inferred relationship Some 1
Hereditary diffuse palmoplantar keratoderma (disorder) Occurrence Congenital false Inferred relationship Some
Hereditary diffuse palmoplantar keratoderma (disorder) Associated morphology anomalie congénitale false Inferred relationship Some 1
Hereditary diffuse palmoplantar keratoderma (disorder) Finding site Skin structure false Inferred relationship Some 1
Hereditary diffuse palmoplantar keratoderma (disorder) Occurrence Congenital false Inferred relationship Some 2
Hereditary diffuse palmoplantar keratoderma (disorder) Associated morphology anomalie du développement false Inferred relationship Some 2
Hereditary diffuse palmoplantar keratoderma (disorder) Finding site Skin structure false Inferred relationship Some 2
Hereditary diffuse palmoplantar keratoderma (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 1
Hereditary diffuse palmoplantar keratoderma (disorder) Has interpretation Abnormal false Inferred relationship Some 2
Hereditary diffuse palmoplantar keratoderma (disorder) Interprets Keratinization false Inferred relationship Some 2
Hereditary diffuse palmoplantar keratoderma (disorder) Finding site Skin structure of sole of foot false Inferred relationship Some 1
Hereditary diffuse palmoplantar keratoderma (disorder) Finding site Skin structure of palmar area of hand false Inferred relationship Some 2
Hereditary diffuse palmoplantar keratoderma (disorder) Associated morphology Hyperkeratosis true Inferred relationship Some 2
Hereditary diffuse palmoplantar keratoderma (disorder) Finding site Entire skin of palmar area of hand (body structure) true Inferred relationship Some 1
Hereditary diffuse palmoplantar keratoderma (disorder) Finding site Entire skin of sole of foot true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Palmoplantar keratoderma transgrediens Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
Acroerythrokeratoderma (disorder) Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
Progressive palmoplantar keratoderma of Greither Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
Epidermolytic palmoplantar keratoderma of Vorner Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
Diffuse palmoplantar keratoderma of Thost-Unna (disorder) Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
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. Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
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. Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
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. Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
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. Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
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. Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
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. Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
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. Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
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. Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
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. Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
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. Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
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. Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
Papillon-Lefèvre syndrome Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
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. Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder) Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis. Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
A rare genetic skin disease characterised by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described. Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some
Schöpf-Schulz-Passarge syndrome Is a True Hereditary diffuse palmoplantar keratoderma (disorder) Inferred relationship Some

This concept is not in any reference sets

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