ONKI3 | Medical Subject Headings

1. Val av ontologi/vokabulär

Med hjälp av ONKI-bläddraren kan du lätt bekanta dig med olika ontologier och vokabulärer. Du kan välja att använda någon av dessa genom att integrera din applikation i ONKI-servicen eller så kan du alternativt ladda innehållet i en ontologi/vokabulär via ONKI-bläddraren och använda det i din applikation på det sätt som ontologins/vokabulärens användarvillkor tillåter.

Du kan också skapa en egen ontologi/vokabulär och ladda in den i ONKI-servicen. En ontologi/vokabulär som du vill ladda in kan du antingen skapa från början eller så kan du bearbeta en ontologi/vokabulär som redan finns i ONKI. Som format för en ontologi/vokabulär som ska laddas in i ONKI kan du använda antingen SKOS- eller OWL-formatet. Tjänstens upprätthållare rekommenderar SKOS-formatet som framställningssätt för ordlistor och klassificeringar, medan det för mera omfattande ontologier torde vara bäst att använda OWL-språket. Ontologi/vokabulär -filen kan du hämta till ONKI-servicen via laddnings. När du har fyllt i formuläret publiceras din ontologi/vokabulär i ONKI-servicen inom några vardagar.

2. Användning av ONKI-servicen vid informationssökning och innehållsbeskrivning

Användning av ONKI-servicen vid informationssökning och/eller innehållsbeskrivning är gratis men kräver registrering. De uppgifter som ombeds vid registreringen används för att få en helhetsbild av vilka tjänster och hur mycket dessa tjänster används och av vem. Vi kan också utnyttja e-postadresserna för att informera stadigvarande användare om viktiga förändringar i anslutning till tjänsten.

ONKI-väljaren

I formuläret som du gör för informationssökning och innehållsbeskrivning kan ONKI-bläddraren användas som ett intelligent textbox-fält. När användaren skriver text i fältet erbjuder ONKI-systemet färdiga alternativ under fältet. Alternativens avgränsning baserar sig på de valbara begreppens stavning och de kan begränsas med hjälp av jokertecken i ONKI-systemet. Alternativen hämtas ur ontologierna/vokabulärerna som är publicerade i ONKI-systemet, beroende på de användarinställningar som du definierat i formuläret.

Vid innehållsbeskrivning kan du vara inriktad på valet av ett begrepp (t.ex. en typ av museiföremål: yxor), men vid informationssökning kan du använda utvidgad sökning med ontologins relationsinformation. Till exempel när man väljer sökordet verktyg som sökvillkor i museiföremålens sökformulär så kan man automatiskt lägga till bl.a. följande söktermer: yxor, cirklar, mejslar, o.s.v.

Maskinella gränssnitt

Via maskinella gränssnitt (Web service och HTTP) kan du utnyttja ONKI mer flexibelt. Behov av flexibilitet fanns bl.a. i SAHA metadata-editorn som utvecklades i SeCo och vid genomförandet kom man fram till att utnyttja gränssnittet för ONKIs web service. Via Web service-gränssnittet kan du ta reda på bl.a. namn som motsvarar begreppens URI på olika språk. Du kan bekanta dig med användning av gränssnittet via testsidan.

Ontologiservicen ONKI är en nationell tjänst som skapats av forskningsgruppen för semantisk beräkning (SeCo) som fungerar vid Aalto-universitetets högskola för teknikvetenskaper och Helsingfors universitet. Tjänsten har utvecklats inom ramen för projekten FinnONTO och FinnONTO 2.0. För utvecklandet av ONKI ansvarar SeCo:s ONKI-arbetsgrupp, till vilken hör:

Jouni Tuominen, doktorand
Eero Hyvönen, professor

Tidigare medlemmar: Kim Viljanen, Rami Alatalo

Tilläggsuppgifter om ONKI

suomeksi på svenska in English

Visningssätt för begreppens/termernas förhållanden: under varandra bredvid varandra

Det sätt begreppsrelationer visas: separat i hierarkin

Iktyos, X-bunden

Laddar resultat...


Hierarki:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Abnormalities ∟ Skin Abnormalities ∟ Ichthyosis ∟ Iktyos, X-bunden 44 sidobegrepp ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Fabry Disease \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases \| ∟ Albinism \| ∟ Cutis Laxa \| ∟ Dermatitis, Atopic \| ∟ Ectodermal Dysplasia \| ∟ Ehlers-Danlos Syndrome \| ∟ Epidermolysis Bullosa \| ∟ Ichthyosiform Erythroderma, Congenital \| ∟ Ichthyosis Bullosa of Siemens \| ∟ Ichthyosis Vulgaris \| ∟ Incontinentia Pigmenti \| ∟ Keratoderma, Palmoplantar \| ∟ Keratosis Follicularis \| ∟ Leukokeratosis, Hereditary Mucosal \| ∟ Lipoid Proteinosis of Urbach and Wiethe \| ∟ Pemphigus, Benign Familial \| ∟ Porokeratosis \| ∟ Porphyria, Erythropoietic \| ∟ Porphyrias, Hepatic \| ∟ Pseudoxanthoma Elasticum \| ∟ Rothmund-Thomson Syndrome \| ∟ Sjogren-Larsson Syndrome \| ∟ Xeroderma Pigmentosum \| ∟ Adrenal Hyperplasia, Congenital \| ∟ Mineralocorticoid Excess Syndrome, Apparent \| ∟ Smith-Lemli-Opitz Syndrome Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Genetic Diseases, X-Linked ∟ Iktyos, X-bunden 44 sidobegrepp ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Fabry Disease \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases \| ∟ Albinism \| ∟ Cutis Laxa \| ∟ Dermatitis, Atopic \| ∟ Ectodermal Dysplasia \| ∟ Ehlers-Danlos Syndrome \| ∟ Epidermolysis Bullosa \| ∟ Ichthyosiform Erythroderma, Congenital \| ∟ Ichthyosis Bullosa of Siemens \| ∟ Ichthyosis Vulgaris \| ∟ Incontinentia Pigmenti \| ∟ Keratoderma, Palmoplantar \| ∟ Keratosis Follicularis \| ∟ Leukokeratosis, Hereditary Mucosal \| ∟ Lipoid Proteinosis of Urbach and Wiethe \| ∟ Pemphigus, Benign Familial \| ∟ Porokeratosis \| ∟ Porphyria, Erythropoietic \| ∟ Porphyrias, Hepatic \| ∟ Pseudoxanthoma Elasticum \| ∟ Rothmund-Thomson Syndrome \| ∟ Sjogren-Larsson Syndrome \| ∟ Xeroderma Pigmentosum \| ∟ Adrenal Hyperplasia, Congenital \| ∟ Mineralocorticoid Excess Syndrome, Apparent \| ∟ Smith-Lemli-Opitz Syndrome Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Steroid Metabolism, Inborn Errors ∟ Iktyos, X-bunden 44 sidobegrepp ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Fabry Disease \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases \| ∟ Albinism \| ∟ Cutis Laxa \| ∟ Dermatitis, Atopic \| ∟ Ectodermal Dysplasia \| ∟ Ehlers-Danlos Syndrome \| ∟ Epidermolysis Bullosa \| ∟ Ichthyosiform Erythroderma, Congenital \| ∟ Ichthyosis Bullosa of Siemens \| ∟ Ichthyosis Vulgaris \| ∟ Incontinentia Pigmenti \| ∟ Keratoderma, Palmoplantar \| ∟ Keratosis Follicularis \| ∟ Leukokeratosis, Hereditary Mucosal \| ∟ Lipoid Proteinosis of Urbach and Wiethe \| ∟ Pemphigus, Benign Familial \| ∟ Porokeratosis \| ∟ Porphyria, Erythropoietic \| ∟ Porphyrias, Hepatic \| ∟ Pseudoxanthoma Elasticum \| ∟ Rothmund-Thomson Syndrome \| ∟ Sjogren-Larsson Syndrome \| ∟ Xeroderma Pigmentosum \| ∟ Adrenal Hyperplasia, Congenital \| ∟ Mineralocorticoid Excess Syndrome, Apparent \| ∟ Smith-Lemli-Opitz Syndrome Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Skin Diseases, Genetic ∟ Iktyos, X-bunden 44 sidobegrepp ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Fabry Disease \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases \| ∟ Albinism \| ∟ Cutis Laxa \| ∟ Dermatitis, Atopic \| ∟ Ectodermal Dysplasia \| ∟ Ehlers-Danlos Syndrome \| ∟ Epidermolysis Bullosa \| ∟ Ichthyosiform Erythroderma, Congenital \| ∟ Ichthyosis Bullosa of Siemens \| ∟ Ichthyosis Vulgaris \| ∟ Incontinentia Pigmenti \| ∟ Keratoderma, Palmoplantar \| ∟ Keratosis Follicularis \| ∟ Leukokeratosis, Hereditary Mucosal \| ∟ Lipoid Proteinosis of Urbach and Wiethe \| ∟ Pemphigus, Benign Familial \| ∟ Porokeratosis \| ∟ Porphyria, Erythropoietic \| ∟ Porphyrias, Hepatic \| ∟ Pseudoxanthoma Elasticum \| ∟ Rothmund-Thomson Syndrome \| ∟ Sjogren-Larsson Syndrome \| ∟ Xeroderma Pigmentosum \| ∟ Adrenal Hyperplasia, Congenital \| ∟ Mineralocorticoid Excess Syndrome, Apparent \| ∟ Smith-Lemli-Opitz Syndrome Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Infant, Newborn, Diseases ∟ Ichthyosis ∟ Iktyos, X-bunden 44 sidobegrepp ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Fabry Disease \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases \| ∟ Albinism \| ∟ Cutis Laxa \| ∟ Dermatitis, Atopic \| ∟ Ectodermal Dysplasia \| ∟ Ehlers-Danlos Syndrome \| ∟ Epidermolysis Bullosa \| ∟ Ichthyosiform Erythroderma, Congenital \| ∟ Ichthyosis Bullosa of Siemens \| ∟ Ichthyosis Vulgaris \| ∟ Incontinentia Pigmenti \| ∟ Keratoderma, Palmoplantar \| ∟ Keratosis Follicularis \| ∟ Leukokeratosis, Hereditary Mucosal \| ∟ Lipoid Proteinosis of Urbach and Wiethe \| ∟ Pemphigus, Benign Familial \| ∟ Porokeratosis \| ∟ Porphyria, Erythropoietic \| ∟ Porphyrias, Hepatic \| ∟ Pseudoxanthoma Elasticum \| ∟ Rothmund-Thomson Syndrome \| ∟ Sjogren-Larsson Syndrome \| ∟ Xeroderma Pigmentosum \| ∟ Adrenal Hyperplasia, Congenital \| ∟ Mineralocorticoid Excess Syndrome, Apparent \| ∟ Smith-Lemli-Opitz Syndrome Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Steroid Metabolism, Inborn Errors ∟ Iktyos, X-bunden 44 sidobegrepp ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Fabry Disease \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases \| ∟ Albinism \| ∟ Cutis Laxa \| ∟ Dermatitis, Atopic \| ∟ Ectodermal Dysplasia \| ∟ Ehlers-Danlos Syndrome \| ∟ Epidermolysis Bullosa \| ∟ Ichthyosiform Erythroderma, Congenital \| ∟ Ichthyosis Bullosa of Siemens \| ∟ Ichthyosis Vulgaris \| ∟ Incontinentia Pigmenti \| ∟ Keratoderma, Palmoplantar \| ∟ Keratosis Follicularis \| ∟ Leukokeratosis, Hereditary Mucosal \| ∟ Lipoid Proteinosis of Urbach and Wiethe \| ∟ Pemphigus, Benign Familial \| ∟ Porokeratosis \| ∟ Porphyria, Erythropoietic \| ∟ Porphyrias, Hepatic \| ∟ Pseudoxanthoma Elasticum \| ∟ Rothmund-Thomson Syndrome \| ∟ Sjogren-Larsson Syndrome \| ∟ Xeroderma Pigmentosum \| ∟ Adrenal Hyperplasia, Congenital \| ∟ Mineralocorticoid Excess Syndrome, Apparent \| ∟ Smith-Lemli-Opitz Syndrome Medical Subject Headings (MeSH) ∟ Skin and Connective Tissue Diseases ∟ Skin Diseases ∟ Keratosis ∟ Ichthyosis ∟ Iktyos, X-bunden 44 sidobegrepp ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Fabry Disease \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases \| ∟ Albinism \| ∟ Cutis Laxa \| ∟ Dermatitis, Atopic \| ∟ Ectodermal Dysplasia \| ∟ Ehlers-Danlos Syndrome \| ∟ Epidermolysis Bullosa \| ∟ Ichthyosiform Erythroderma, Congenital \| ∟ Ichthyosis Bullosa of Siemens \| ∟ Ichthyosis Vulgaris \| ∟ Incontinentia Pigmenti \| ∟ Keratoderma, Palmoplantar \| ∟ Keratosis Follicularis \| ∟ Leukokeratosis, Hereditary Mucosal \| ∟ Lipoid Proteinosis of Urbach and Wiethe \| ∟ Pemphigus, Benign Familial \| ∟ Porokeratosis \| ∟ Porphyria, Erythropoietic \| ∟ Porphyrias, Hepatic \| ∟ Pseudoxanthoma Elasticum \| ∟ Rothmund-Thomson Syndrome \| ∟ Sjogren-Larsson Syndrome \| ∟ Xeroderma Pigmentosum \| ∟ Adrenal Hyperplasia, Congenital \| ∟ Mineralocorticoid Excess Syndrome, Apparent \| ∟ Smith-Lemli-Opitz Syndrome Medical Subject Headings (MeSH) ∟ Skin and Connective Tissue Diseases ∟ Skin Diseases ∟ Skin Abnormalities ∟ Ichthyosis ∟ Iktyos, X-bunden 44 sidobegrepp ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Fabry Disease \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases \| ∟ Albinism \| ∟ Cutis Laxa \| ∟ Dermatitis, Atopic \| ∟ Ectodermal Dysplasia \| ∟ Ehlers-Danlos Syndrome \| ∟ Epidermolysis Bullosa \| ∟ Ichthyosiform Erythroderma, Congenital \| ∟ Ichthyosis Bullosa of Siemens \| ∟ Ichthyosis Vulgaris \| ∟ Incontinentia Pigmenti \| ∟ Keratoderma, Palmoplantar \| ∟ Keratosis Follicularis \| ∟ Leukokeratosis, Hereditary Mucosal \| ∟ Lipoid Proteinosis of Urbach and Wiethe \| ∟ Pemphigus, Benign Familial \| ∟ Porokeratosis \| ∟ Porphyria, Erythropoietic \| ∟ Porphyrias, Hepatic \| ∟ Pseudoxanthoma Elasticum \| ∟ Rothmund-Thomson Syndrome \| ∟ Sjogren-Larsson Syndrome \| ∟ Xeroderma Pigmentosum \| ∟ Adrenal Hyperplasia, Congenital \| ∟ Mineralocorticoid Excess Syndrome, Apparent \| ∟ Smith-Lemli-Opitz Syndrome Medical Subject Headings (MeSH) ∟ Skin and Connective Tissue Diseases ∟ Skin Diseases ∟ Skin Diseases, Genetic ∟ Iktyos, X-bunden 44 sidobegrepp ∟ Androgen-Insensitivity Syndrome \| ∟ Choroideremia \| ∟ Dyskeratosis Congenita \| ∟ Ectodermal Dysplasia 1, Anhidrotic \| ∟ Fabry Disease \| ∟ Focal Dermal Hypoplasia \| ∟ Glycogen Storage Disease Type IIb \| ∟ Glycogen Storage Disease Type VIII \| ∟ Granulomatous Disease, Chronic \| ∟ Hemophilia B \| ∟ Hyper-IgM Immunodeficiency Syndrome, Type 1 \| ∟ Hypophosphatemic Rickets, X-Linked Dominant \| ∟ Mental Retardation, X-Linked \| ∟ Muscular Dystrophy, Duchenne \| ∟ Muscular Dystrophy, Emery-Dreifuss \| ∟ Oculocerebrorenal Syndrome \| ∟ Pelizaeus-Merzbacher Disease \| ∟ Wiskott-Aldrich Syndrome \| ∟ X-Linked Combined Immunodeficiency Diseases \| ∟ Albinism \| ∟ Cutis Laxa \| ∟ Dermatitis, Atopic \| ∟ Ectodermal Dysplasia \| ∟ Ehlers-Danlos Syndrome \| ∟ Epidermolysis Bullosa \| ∟ Ichthyosiform Erythroderma, Congenital \| ∟ Ichthyosis Bullosa of Siemens \| ∟ Ichthyosis Vulgaris \| ∟ Incontinentia Pigmenti \| ∟ Keratoderma, Palmoplantar \| ∟ Keratosis Follicularis \| ∟ Leukokeratosis, Hereditary Mucosal \| ∟ Lipoid Proteinosis of Urbach and Wiethe \| ∟ Pemphigus, Benign Familial \| ∟ Porokeratosis \| ∟ Porphyria, Erythropoietic \| ∟ Porphyrias, Hepatic \| ∟ Pseudoxanthoma Elasticum \| ∟ Rothmund-Thomson Syndrome \| ∟ Sjogren-Larsson Syndrome \| ∟ Xeroderma Pigmentosum \| ∟ Adrenal Hyperplasia, Congenital \| ∟ Mineralocorticoid Excess Syndrome, Apparent \| ∟ Smith-Lemli-Opitz Syndrome X
Bredare villkor:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Abnormalities ∟ Skin Abnormalities ∟ Ichthyosis ∟ Iktyos, X-bunden Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Genetic Diseases, X-Linked ∟ Iktyos, X-bunden Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Steroid Metabolism, Inborn Errors ∟ Iktyos, X-bunden Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Skin Diseases, Genetic ∟ Iktyos, X-bunden Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Infant, Newborn, Diseases ∟ Ichthyosis ∟ Iktyos, X-bunden Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Steroid Metabolism, Inborn Errors ∟ Iktyos, X-bunden Medical Subject Headings (MeSH) ∟ Skin and Connective Tissue Diseases ∟ Skin Diseases ∟ Keratosis ∟ Ichthyosis ∟ Iktyos, X-bunden Medical Subject Headings (MeSH) ∟ Skin and Connective Tissue Diseases ∟ Skin Diseases ∟ Skin Abnormalities ∟ Ichthyosis ∟ Iktyos, X-bunden Medical Subject Headings (MeSH) ∟ Skin and Connective Tissue Diseases ∟ Skin Diseases ∟ Skin Diseases, Genetic ∟ Iktyos, X-bunden Ichthyosis > Skin Abnormalities > Abnormalities > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Genetic Diseases, X-Linked > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Steroid Metabolism, Inborn Errors > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Skin Diseases, Genetic > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Ichthyosis > Infant, Newborn, Diseases > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Steroid Metabolism, Inborn Errors > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Ichthyosis > Keratosis > Skin Diseases > Skin and Connective Tissue Diseases > Medical Subject Headings (MeSH) Ichthyosis > Skin Abnormalities > Skin Diseases > Skin and Connective Tissue Diseases > Medical Subject Headings (MeSH) Skin Diseases, Genetic > Skin Diseases > Skin and Connective Tissue Diseases > Medical Subject Headings (MeSH) X
Anmärkning:	Ichthyosis (1966-1990)X
Anmärkning:	Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency. X
Annotation:	do not use /congen & do not coord with INFANT, NEWBORN, DISEASES X
historyNote*:	91 X
publicMeSHNote*:	91 X
activeMeSHYear*:	2007X
dateCreated*:	1990-02-12X
dateEstablished*:	1991-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	AGSX
Relaterad term:	Steryl-Sulfatase X
Typ:	Concept X
Samordna villkor:	Androgen-Insensitivity Syndrome \| Choroideremia \| Dyskeratosis Congenita \| Ectodermal Dysplasia 1, Anhidrotic \| Fabry Disease \| Focal Dermal Hypoplasia \| Glycogen Storage Disease Type IIb \| Glycogen Storage Disease Type VIII \| Granulomatous Disease, Chronic \| Hemophilia B \| Hyper-IgM Immunodeficiency Syndrome, Type 1 \| Hypophosphatemic Rickets, X-Linked Dominant \| Mental Retardation, X-Linked \| Muscular Dystrophy, Duchenne \| Muscular Dystrophy, Emery-Dreifuss \| Oculocerebrorenal Syndrome \| Pelizaeus-Merzbacher Disease \| Wiskott-Aldrich Syndrome \| X-Linked Combined Immunodeficiency Diseases \| Albinism \| Cutis Laxa \| Dermatitis, Atopic \| Ectodermal Dysplasia \| Ehlers-Danlos Syndrome \| Epidermolysis Bullosa \| Ichthyosiform Erythroderma, Congenital \| Ichthyosis Bullosa of Siemens \| Ichthyosis Vulgaris \| Incontinentia Pigmenti \| Keratoderma, Palmoplantar \| Keratosis Follicularis \| Leukokeratosis, Hereditary Mucosal \| Lipoid Proteinosis of Urbach and Wiethe \| Pemphigus, Benign Familial \| Porokeratosis \| Porphyria, Erythropoietic \| Porphyrias, Hepatic \| Pseudoxanthoma Elasticum \| Rothmund-Thomson Syndrome \| Sjogren-Larsson Syndrome \| Xeroderma Pigmentosum \| Adrenal Hyperplasia, Congenital \| Mineralocorticoid Excess Syndrome, Apparent \| Smith-Lemli-Opitz Syndrome X
URI:	X
Termer och motsvarande begrepp:	X-kromosomissa periytyvä kalansuomutauti (fi) X-sidonnainen kalansuomutauti (fi, ersatt) X-sidonnainen iktyoosi (fi, ersatt) X-kromosomissa periytyvä iktyoosi (fi, ersatt) Ichthyosis, X-Linked (en) Ichthyosis, Sex-Linked (en, ersatt) Ichtyosis congenita recessiva (la-FI, ersatt) X
Dela:	X