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

Zellwegers syndrom

Laddar resultat...


Hierarki:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Abnormalities ∟ Abnormalities, Multiple ∟ Zellwegers syndrom 81 sidobegrepp ∟ Cholestasis, Intrahepatic \| ∟ Fatty Liver \| ∟ Focal Nodular Hyperplasia \| ∟ Hepatic Insufficiency \| ∟ Hepatic Vein Thrombosis \| ∟ Hepatic Veno-Occlusive Disease \| ∟ Hepatitis \| ∟ Hepatolenticular Degeneration \| ∟ Hepatopulmonary Syndrome \| ∟ Hepatorenal Syndrome \| ∟ Hypertension, Portal \| ∟ Liver Abscess \| ∟ Liver Cirrhosis \| ∟ Liver Diseases, Alcoholic \| ∟ Liver Diseases, Parasitic \| ∟ Liver Neoplasms \| ∟ Peliosis Hepatis \| ∟ Porphyrias, Hepatic \| ∟ Tuberculosis, Hepatic \| ∟ Alagille Syndrome \| ∟ Angelman Syndrome \| ∟ Bardet-Biedl Syndrome \| ∟ Basal Cell Nevus Syndrome \| ∟ Beckwith-Wiedemann Syndrome \| ∟ Bloom Syndrome \| ∟ Branchio-Oto-Renal Syndrome \| ∟ Cockayne Syndrome \| ∟ Cri-du-Chat Syndrome \| ∟ De Lange Syndrome \| ∟ Down Syndrome \| ∟ Ectodermal Dysplasia \| ∟ Gardner Syndrome \| ∟ Holoprosencephaly \| ∟ Incontinentia Pigmenti \| ∟ Laurence-Moon Syndrome \| ∟ LEOPARD Syndrome \| ∟ Marfan Syndrome \| ∟ Mobius Syndrome \| ∟ Nail-Patella Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Orofaciodigital Syndromes \| ∟ POEMS Syndrome \| ∟ Prader-Willi Syndrome \| ∟ Proteus Syndrome \| ∟ Prune Belly Syndrome \| ∟ Rubella Syndrome, Congenital \| ∟ Rubinstein-Taybi Syndrome \| ∟ Short Rib-Polydactyly Syndrome \| ∟ Smith-Lemli-Opitz Syndrome \| ∟ Waardenburg's Syndrome \| ∟ Wolfram Syndrome \| ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease \| ∟ Refsum Disease, Infantile \| ∟ AIDS-Associated Nephropathy \| ∟ Anuria \| ∟ Diabetes Insipidus \| ∟ Diabetic Nephropathies \| ∟ Fanconi Syndrome \| ∟ Hydronephrosis \| ∟ Hyperoxaluria \| ∟ Hypertension, Renal \| ∟ Kidney Cortex Necrosis \| ∟ Kidney Diseases, Cystic \| ∟ Kidney Neoplasms \| ∟ Kidney Papillary Necrosis \| ∟ Nephritis \| ∟ Nephrocalcinosis \| ∟ Nephrolithiasis \| ∟ Nephrosclerosis \| ∟ Nephrosis \| ∟ Perinephritis \| ∟ Renal Artery Obstruction \| ∟ Renal Insufficiency \| ∟ Renal Osteodystrophy \| ∟ Renal Tubular Transport, Inborn Errors \| ∟ Tuberculosis, Renal \| ∟ Uremia \| ∟ Wegener Granulomatosis Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Zellwegers syndrom 81 sidobegrepp ∟ Cholestasis, Intrahepatic \| ∟ Fatty Liver \| ∟ Focal Nodular Hyperplasia \| ∟ Hepatic Insufficiency \| ∟ Hepatic Vein Thrombosis \| ∟ Hepatic Veno-Occlusive Disease \| ∟ Hepatitis \| ∟ Hepatolenticular Degeneration \| ∟ Hepatopulmonary Syndrome \| ∟ Hepatorenal Syndrome \| ∟ Hypertension, Portal \| ∟ Liver Abscess \| ∟ Liver Cirrhosis \| ∟ Liver Diseases, Alcoholic \| ∟ Liver Diseases, Parasitic \| ∟ Liver Neoplasms \| ∟ Peliosis Hepatis \| ∟ Porphyrias, Hepatic \| ∟ Tuberculosis, Hepatic \| ∟ Alagille Syndrome \| ∟ Angelman Syndrome \| ∟ Bardet-Biedl Syndrome \| ∟ Basal Cell Nevus Syndrome \| ∟ Beckwith-Wiedemann Syndrome \| ∟ Bloom Syndrome \| ∟ Branchio-Oto-Renal Syndrome \| ∟ Cockayne Syndrome \| ∟ Cri-du-Chat Syndrome \| ∟ De Lange Syndrome \| ∟ Down Syndrome \| ∟ Ectodermal Dysplasia \| ∟ Gardner Syndrome \| ∟ Holoprosencephaly \| ∟ Incontinentia Pigmenti \| ∟ Laurence-Moon Syndrome \| ∟ LEOPARD Syndrome \| ∟ Marfan Syndrome \| ∟ Mobius Syndrome \| ∟ Nail-Patella Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Orofaciodigital Syndromes \| ∟ POEMS Syndrome \| ∟ Prader-Willi Syndrome \| ∟ Proteus Syndrome \| ∟ Prune Belly Syndrome \| ∟ Rubella Syndrome, Congenital \| ∟ Rubinstein-Taybi Syndrome \| ∟ Short Rib-Polydactyly Syndrome \| ∟ Smith-Lemli-Opitz Syndrome \| ∟ Waardenburg's Syndrome \| ∟ Wolfram Syndrome \| ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease \| ∟ Refsum Disease, Infantile \| ∟ AIDS-Associated Nephropathy \| ∟ Anuria \| ∟ Diabetes Insipidus \| ∟ Diabetic Nephropathies \| ∟ Fanconi Syndrome \| ∟ Hydronephrosis \| ∟ Hyperoxaluria \| ∟ Hypertension, Renal \| ∟ Kidney Cortex Necrosis \| ∟ Kidney Diseases, Cystic \| ∟ Kidney Neoplasms \| ∟ Kidney Papillary Necrosis \| ∟ Nephritis \| ∟ Nephrocalcinosis \| ∟ Nephrolithiasis \| ∟ Nephrosclerosis \| ∟ Nephrosis \| ∟ Perinephritis \| ∟ Renal Artery Obstruction \| ∟ Renal Insufficiency \| ∟ Renal Osteodystrophy \| ∟ Renal Tubular Transport, Inborn Errors \| ∟ Tuberculosis, Renal \| ∟ Uremia \| ∟ Wegener Granulomatosis Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Peroxisomal Disorders ∟ Zellwegers syndrom 81 sidobegrepp ∟ Cholestasis, Intrahepatic \| ∟ Fatty Liver \| ∟ Focal Nodular Hyperplasia \| ∟ Hepatic Insufficiency \| ∟ Hepatic Vein Thrombosis \| ∟ Hepatic Veno-Occlusive Disease \| ∟ Hepatitis \| ∟ Hepatolenticular Degeneration \| ∟ Hepatopulmonary Syndrome \| ∟ Hepatorenal Syndrome \| ∟ Hypertension, Portal \| ∟ Liver Abscess \| ∟ Liver Cirrhosis \| ∟ Liver Diseases, Alcoholic \| ∟ Liver Diseases, Parasitic \| ∟ Liver Neoplasms \| ∟ Peliosis Hepatis \| ∟ Porphyrias, Hepatic \| ∟ Tuberculosis, Hepatic \| ∟ Alagille Syndrome \| ∟ Angelman Syndrome \| ∟ Bardet-Biedl Syndrome \| ∟ Basal Cell Nevus Syndrome \| ∟ Beckwith-Wiedemann Syndrome \| ∟ Bloom Syndrome \| ∟ Branchio-Oto-Renal Syndrome \| ∟ Cockayne Syndrome \| ∟ Cri-du-Chat Syndrome \| ∟ De Lange Syndrome \| ∟ Down Syndrome \| ∟ Ectodermal Dysplasia \| ∟ Gardner Syndrome \| ∟ Holoprosencephaly \| ∟ Incontinentia Pigmenti \| ∟ Laurence-Moon Syndrome \| ∟ LEOPARD Syndrome \| ∟ Marfan Syndrome \| ∟ Mobius Syndrome \| ∟ Nail-Patella Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Orofaciodigital Syndromes \| ∟ POEMS Syndrome \| ∟ Prader-Willi Syndrome \| ∟ Proteus Syndrome \| ∟ Prune Belly Syndrome \| ∟ Rubella Syndrome, Congenital \| ∟ Rubinstein-Taybi Syndrome \| ∟ Short Rib-Polydactyly Syndrome \| ∟ Smith-Lemli-Opitz Syndrome \| ∟ Waardenburg's Syndrome \| ∟ Wolfram Syndrome \| ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease \| ∟ Refsum Disease, Infantile \| ∟ AIDS-Associated Nephropathy \| ∟ Anuria \| ∟ Diabetes Insipidus \| ∟ Diabetic Nephropathies \| ∟ Fanconi Syndrome \| ∟ Hydronephrosis \| ∟ Hyperoxaluria \| ∟ Hypertension, Renal \| ∟ Kidney Cortex Necrosis \| ∟ Kidney Diseases, Cystic \| ∟ Kidney Neoplasms \| ∟ Kidney Papillary Necrosis \| ∟ Nephritis \| ∟ Nephrocalcinosis \| ∟ Nephrolithiasis \| ∟ Nephrosclerosis \| ∟ Nephrosis \| ∟ Perinephritis \| ∟ Renal Artery Obstruction \| ∟ Renal Insufficiency \| ∟ Renal Osteodystrophy \| ∟ Renal Tubular Transport, Inborn Errors \| ∟ Tuberculosis, Renal \| ∟ Uremia \| ∟ Wegener Granulomatosis Medical Subject Headings (MeSH) ∟ Digestive System Diseases ∟ Liver Diseases ∟ Zellwegers syndrom 81 sidobegrepp ∟ Cholestasis, Intrahepatic \| ∟ Fatty Liver \| ∟ Focal Nodular Hyperplasia \| ∟ Hepatic Insufficiency \| ∟ Hepatic Vein Thrombosis \| ∟ Hepatic Veno-Occlusive Disease \| ∟ Hepatitis \| ∟ Hepatolenticular Degeneration \| ∟ Hepatopulmonary Syndrome \| ∟ Hepatorenal Syndrome \| ∟ Hypertension, Portal \| ∟ Liver Abscess \| ∟ Liver Cirrhosis \| ∟ Liver Diseases, Alcoholic \| ∟ Liver Diseases, Parasitic \| ∟ Liver Neoplasms \| ∟ Peliosis Hepatis \| ∟ Porphyrias, Hepatic \| ∟ Tuberculosis, Hepatic \| ∟ Alagille Syndrome \| ∟ Angelman Syndrome \| ∟ Bardet-Biedl Syndrome \| ∟ Basal Cell Nevus Syndrome \| ∟ Beckwith-Wiedemann Syndrome \| ∟ Bloom Syndrome \| ∟ Branchio-Oto-Renal Syndrome \| ∟ Cockayne Syndrome \| ∟ Cri-du-Chat Syndrome \| ∟ De Lange Syndrome \| ∟ Down Syndrome \| ∟ Ectodermal Dysplasia \| ∟ Gardner Syndrome \| ∟ Holoprosencephaly \| ∟ Incontinentia Pigmenti \| ∟ Laurence-Moon Syndrome \| ∟ LEOPARD Syndrome \| ∟ Marfan Syndrome \| ∟ Mobius Syndrome \| ∟ Nail-Patella Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Orofaciodigital Syndromes \| ∟ POEMS Syndrome \| ∟ Prader-Willi Syndrome \| ∟ Proteus Syndrome \| ∟ Prune Belly Syndrome \| ∟ Rubella Syndrome, Congenital \| ∟ Rubinstein-Taybi Syndrome \| ∟ Short Rib-Polydactyly Syndrome \| ∟ Smith-Lemli-Opitz Syndrome \| ∟ Waardenburg's Syndrome \| ∟ Wolfram Syndrome \| ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease \| ∟ Refsum Disease, Infantile \| ∟ AIDS-Associated Nephropathy \| ∟ Anuria \| ∟ Diabetes Insipidus \| ∟ Diabetic Nephropathies \| ∟ Fanconi Syndrome \| ∟ Hydronephrosis \| ∟ Hyperoxaluria \| ∟ Hypertension, Renal \| ∟ Kidney Cortex Necrosis \| ∟ Kidney Diseases, Cystic \| ∟ Kidney Neoplasms \| ∟ Kidney Papillary Necrosis \| ∟ Nephritis \| ∟ Nephrocalcinosis \| ∟ Nephrolithiasis \| ∟ Nephrosclerosis \| ∟ Nephrosis \| ∟ Perinephritis \| ∟ Renal Artery Obstruction \| ∟ Renal Insufficiency \| ∟ Renal Osteodystrophy \| ∟ Renal Tubular Transport, Inborn Errors \| ∟ Tuberculosis, Renal \| ∟ Uremia \| ∟ Wegener Granulomatosis Medical Subject Headings (MeSH) ∟ Female Urogenital Diseases and Pregnancy Complications ∟ Female Urogenital Diseases ∟ Urologic Diseases ∟ Kidney Diseases ∟ Zellwegers syndrom 81 sidobegrepp ∟ Cholestasis, Intrahepatic \| ∟ Fatty Liver \| ∟ Focal Nodular Hyperplasia \| ∟ Hepatic Insufficiency \| ∟ Hepatic Vein Thrombosis \| ∟ Hepatic Veno-Occlusive Disease \| ∟ Hepatitis \| ∟ Hepatolenticular Degeneration \| ∟ Hepatopulmonary Syndrome \| ∟ Hepatorenal Syndrome \| ∟ Hypertension, Portal \| ∟ Liver Abscess \| ∟ Liver Cirrhosis \| ∟ Liver Diseases, Alcoholic \| ∟ Liver Diseases, Parasitic \| ∟ Liver Neoplasms \| ∟ Peliosis Hepatis \| ∟ Porphyrias, Hepatic \| ∟ Tuberculosis, Hepatic \| ∟ Alagille Syndrome \| ∟ Angelman Syndrome \| ∟ Bardet-Biedl Syndrome \| ∟ Basal Cell Nevus Syndrome \| ∟ Beckwith-Wiedemann Syndrome \| ∟ Bloom Syndrome \| ∟ Branchio-Oto-Renal Syndrome \| ∟ Cockayne Syndrome \| ∟ Cri-du-Chat Syndrome \| ∟ De Lange Syndrome \| ∟ Down Syndrome \| ∟ Ectodermal Dysplasia \| ∟ Gardner Syndrome \| ∟ Holoprosencephaly \| ∟ Incontinentia Pigmenti \| ∟ Laurence-Moon Syndrome \| ∟ LEOPARD Syndrome \| ∟ Marfan Syndrome \| ∟ Mobius Syndrome \| ∟ Nail-Patella Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Orofaciodigital Syndromes \| ∟ POEMS Syndrome \| ∟ Prader-Willi Syndrome \| ∟ Proteus Syndrome \| ∟ Prune Belly Syndrome \| ∟ Rubella Syndrome, Congenital \| ∟ Rubinstein-Taybi Syndrome \| ∟ Short Rib-Polydactyly Syndrome \| ∟ Smith-Lemli-Opitz Syndrome \| ∟ Waardenburg's Syndrome \| ∟ Wolfram Syndrome \| ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease \| ∟ Refsum Disease, Infantile \| ∟ AIDS-Associated Nephropathy \| ∟ Anuria \| ∟ Diabetes Insipidus \| ∟ Diabetic Nephropathies \| ∟ Fanconi Syndrome \| ∟ Hydronephrosis \| ∟ Hyperoxaluria \| ∟ Hypertension, Renal \| ∟ Kidney Cortex Necrosis \| ∟ Kidney Diseases, Cystic \| ∟ Kidney Neoplasms \| ∟ Kidney Papillary Necrosis \| ∟ Nephritis \| ∟ Nephrocalcinosis \| ∟ Nephrolithiasis \| ∟ Nephrosclerosis \| ∟ Nephrosis \| ∟ Perinephritis \| ∟ Renal Artery Obstruction \| ∟ Renal Insufficiency \| ∟ Renal Osteodystrophy \| ∟ Renal Tubular Transport, Inborn Errors \| ∟ Tuberculosis, Renal \| ∟ Uremia \| ∟ Wegener Granulomatosis Medical Subject Headings (MeSH) ∟ Male Urogenital Diseases ∟ Urologic Diseases ∟ Kidney Diseases ∟ Zellwegers syndrom 81 sidobegrepp ∟ Cholestasis, Intrahepatic \| ∟ Fatty Liver \| ∟ Focal Nodular Hyperplasia \| ∟ Hepatic Insufficiency \| ∟ Hepatic Vein Thrombosis \| ∟ Hepatic Veno-Occlusive Disease \| ∟ Hepatitis \| ∟ Hepatolenticular Degeneration \| ∟ Hepatopulmonary Syndrome \| ∟ Hepatorenal Syndrome \| ∟ Hypertension, Portal \| ∟ Liver Abscess \| ∟ Liver Cirrhosis \| ∟ Liver Diseases, Alcoholic \| ∟ Liver Diseases, Parasitic \| ∟ Liver Neoplasms \| ∟ Peliosis Hepatis \| ∟ Porphyrias, Hepatic \| ∟ Tuberculosis, Hepatic \| ∟ Alagille Syndrome \| ∟ Angelman Syndrome \| ∟ Bardet-Biedl Syndrome \| ∟ Basal Cell Nevus Syndrome \| ∟ Beckwith-Wiedemann Syndrome \| ∟ Bloom Syndrome \| ∟ Branchio-Oto-Renal Syndrome \| ∟ Cockayne Syndrome \| ∟ Cri-du-Chat Syndrome \| ∟ De Lange Syndrome \| ∟ Down Syndrome \| ∟ Ectodermal Dysplasia \| ∟ Gardner Syndrome \| ∟ Holoprosencephaly \| ∟ Incontinentia Pigmenti \| ∟ Laurence-Moon Syndrome \| ∟ LEOPARD Syndrome \| ∟ Marfan Syndrome \| ∟ Mobius Syndrome \| ∟ Nail-Patella Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Orofaciodigital Syndromes \| ∟ POEMS Syndrome \| ∟ Prader-Willi Syndrome \| ∟ Proteus Syndrome \| ∟ Prune Belly Syndrome \| ∟ Rubella Syndrome, Congenital \| ∟ Rubinstein-Taybi Syndrome \| ∟ Short Rib-Polydactyly Syndrome \| ∟ Smith-Lemli-Opitz Syndrome \| ∟ Waardenburg's Syndrome \| ∟ Wolfram Syndrome \| ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease \| ∟ Refsum Disease, Infantile \| ∟ AIDS-Associated Nephropathy \| ∟ Anuria \| ∟ Diabetes Insipidus \| ∟ Diabetic Nephropathies \| ∟ Fanconi Syndrome \| ∟ Hydronephrosis \| ∟ Hyperoxaluria \| ∟ Hypertension, Renal \| ∟ Kidney Cortex Necrosis \| ∟ Kidney Diseases, Cystic \| ∟ Kidney Neoplasms \| ∟ Kidney Papillary Necrosis \| ∟ Nephritis \| ∟ Nephrocalcinosis \| ∟ Nephrolithiasis \| ∟ Nephrosclerosis \| ∟ Nephrosis \| ∟ Perinephritis \| ∟ Renal Artery Obstruction \| ∟ Renal Insufficiency \| ∟ Renal Osteodystrophy \| ∟ Renal Tubular Transport, Inborn Errors \| ∟ Tuberculosis, Renal \| ∟ Uremia \| ∟ Wegener Granulomatosis Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Zellwegers syndrom 81 sidobegrepp ∟ Cholestasis, Intrahepatic \| ∟ Fatty Liver \| ∟ Focal Nodular Hyperplasia \| ∟ Hepatic Insufficiency \| ∟ Hepatic Vein Thrombosis \| ∟ Hepatic Veno-Occlusive Disease \| ∟ Hepatitis \| ∟ Hepatolenticular Degeneration \| ∟ Hepatopulmonary Syndrome \| ∟ Hepatorenal Syndrome \| ∟ Hypertension, Portal \| ∟ Liver Abscess \| ∟ Liver Cirrhosis \| ∟ Liver Diseases, Alcoholic \| ∟ Liver Diseases, Parasitic \| ∟ Liver Neoplasms \| ∟ Peliosis Hepatis \| ∟ Porphyrias, Hepatic \| ∟ Tuberculosis, Hepatic \| ∟ Alagille Syndrome \| ∟ Angelman Syndrome \| ∟ Bardet-Biedl Syndrome \| ∟ Basal Cell Nevus Syndrome \| ∟ Beckwith-Wiedemann Syndrome \| ∟ Bloom Syndrome \| ∟ Branchio-Oto-Renal Syndrome \| ∟ Cockayne Syndrome \| ∟ Cri-du-Chat Syndrome \| ∟ De Lange Syndrome \| ∟ Down Syndrome \| ∟ Ectodermal Dysplasia \| ∟ Gardner Syndrome \| ∟ Holoprosencephaly \| ∟ Incontinentia Pigmenti \| ∟ Laurence-Moon Syndrome \| ∟ LEOPARD Syndrome \| ∟ Marfan Syndrome \| ∟ Mobius Syndrome \| ∟ Nail-Patella Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Orofaciodigital Syndromes \| ∟ POEMS Syndrome \| ∟ Prader-Willi Syndrome \| ∟ Proteus Syndrome \| ∟ Prune Belly Syndrome \| ∟ Rubella Syndrome, Congenital \| ∟ Rubinstein-Taybi Syndrome \| ∟ Short Rib-Polydactyly Syndrome \| ∟ Smith-Lemli-Opitz Syndrome \| ∟ Waardenburg's Syndrome \| ∟ Wolfram Syndrome \| ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease \| ∟ Refsum Disease, Infantile \| ∟ AIDS-Associated Nephropathy \| ∟ Anuria \| ∟ Diabetes Insipidus \| ∟ Diabetic Nephropathies \| ∟ Fanconi Syndrome \| ∟ Hydronephrosis \| ∟ Hyperoxaluria \| ∟ Hypertension, Renal \| ∟ Kidney Cortex Necrosis \| ∟ Kidney Diseases, Cystic \| ∟ Kidney Neoplasms \| ∟ Kidney Papillary Necrosis \| ∟ Nephritis \| ∟ Nephrocalcinosis \| ∟ Nephrolithiasis \| ∟ Nephrosclerosis \| ∟ Nephrosis \| ∟ Perinephritis \| ∟ Renal Artery Obstruction \| ∟ Renal Insufficiency \| ∟ Renal Osteodystrophy \| ∟ Renal Tubular Transport, Inborn Errors \| ∟ Tuberculosis, Renal \| ∟ Uremia \| ∟ Wegener Granulomatosis Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Zellwegers syndrom 81 sidobegrepp ∟ Cholestasis, Intrahepatic \| ∟ Fatty Liver \| ∟ Focal Nodular Hyperplasia \| ∟ Hepatic Insufficiency \| ∟ Hepatic Vein Thrombosis \| ∟ Hepatic Veno-Occlusive Disease \| ∟ Hepatitis \| ∟ Hepatolenticular Degeneration \| ∟ Hepatopulmonary Syndrome \| ∟ Hepatorenal Syndrome \| ∟ Hypertension, Portal \| ∟ Liver Abscess \| ∟ Liver Cirrhosis \| ∟ Liver Diseases, Alcoholic \| ∟ Liver Diseases, Parasitic \| ∟ Liver Neoplasms \| ∟ Peliosis Hepatis \| ∟ Porphyrias, Hepatic \| ∟ Tuberculosis, Hepatic \| ∟ Alagille Syndrome \| ∟ Angelman Syndrome \| ∟ Bardet-Biedl Syndrome \| ∟ Basal Cell Nevus Syndrome \| ∟ Beckwith-Wiedemann Syndrome \| ∟ Bloom Syndrome \| ∟ Branchio-Oto-Renal Syndrome \| ∟ Cockayne Syndrome \| ∟ Cri-du-Chat Syndrome \| ∟ De Lange Syndrome \| ∟ Down Syndrome \| ∟ Ectodermal Dysplasia \| ∟ Gardner Syndrome \| ∟ Holoprosencephaly \| ∟ Incontinentia Pigmenti \| ∟ Laurence-Moon Syndrome \| ∟ LEOPARD Syndrome \| ∟ Marfan Syndrome \| ∟ Mobius Syndrome \| ∟ Nail-Patella Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Orofaciodigital Syndromes \| ∟ POEMS Syndrome \| ∟ Prader-Willi Syndrome \| ∟ Proteus Syndrome \| ∟ Prune Belly Syndrome \| ∟ Rubella Syndrome, Congenital \| ∟ Rubinstein-Taybi Syndrome \| ∟ Short Rib-Polydactyly Syndrome \| ∟ Smith-Lemli-Opitz Syndrome \| ∟ Waardenburg's Syndrome \| ∟ Wolfram Syndrome \| ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease \| ∟ Refsum Disease, Infantile \| ∟ AIDS-Associated Nephropathy \| ∟ Anuria \| ∟ Diabetes Insipidus \| ∟ Diabetic Nephropathies \| ∟ Fanconi Syndrome \| ∟ Hydronephrosis \| ∟ Hyperoxaluria \| ∟ Hypertension, Renal \| ∟ Kidney Cortex Necrosis \| ∟ Kidney Diseases, Cystic \| ∟ Kidney Neoplasms \| ∟ Kidney Papillary Necrosis \| ∟ Nephritis \| ∟ Nephrocalcinosis \| ∟ Nephrolithiasis \| ∟ Nephrosclerosis \| ∟ Nephrosis \| ∟ Perinephritis \| ∟ Renal Artery Obstruction \| ∟ Renal Insufficiency \| ∟ Renal Osteodystrophy \| ∟ Renal Tubular Transport, Inborn Errors \| ∟ Tuberculosis, Renal \| ∟ Uremia \| ∟ Wegener Granulomatosis Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Zellwegers syndrom 81 sidobegrepp ∟ Cholestasis, Intrahepatic \| ∟ Fatty Liver \| ∟ Focal Nodular Hyperplasia \| ∟ Hepatic Insufficiency \| ∟ Hepatic Vein Thrombosis \| ∟ Hepatic Veno-Occlusive Disease \| ∟ Hepatitis \| ∟ Hepatolenticular Degeneration \| ∟ Hepatopulmonary Syndrome \| ∟ Hepatorenal Syndrome \| ∟ Hypertension, Portal \| ∟ Liver Abscess \| ∟ Liver Cirrhosis \| ∟ Liver Diseases, Alcoholic \| ∟ Liver Diseases, Parasitic \| ∟ Liver Neoplasms \| ∟ Peliosis Hepatis \| ∟ Porphyrias, Hepatic \| ∟ Tuberculosis, Hepatic \| ∟ Alagille Syndrome \| ∟ Angelman Syndrome \| ∟ Bardet-Biedl Syndrome \| ∟ Basal Cell Nevus Syndrome \| ∟ Beckwith-Wiedemann Syndrome \| ∟ Bloom Syndrome \| ∟ Branchio-Oto-Renal Syndrome \| ∟ Cockayne Syndrome \| ∟ Cri-du-Chat Syndrome \| ∟ De Lange Syndrome \| ∟ Down Syndrome \| ∟ Ectodermal Dysplasia \| ∟ Gardner Syndrome \| ∟ Holoprosencephaly \| ∟ Incontinentia Pigmenti \| ∟ Laurence-Moon Syndrome \| ∟ LEOPARD Syndrome \| ∟ Marfan Syndrome \| ∟ Mobius Syndrome \| ∟ Nail-Patella Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Orofaciodigital Syndromes \| ∟ POEMS Syndrome \| ∟ Prader-Willi Syndrome \| ∟ Proteus Syndrome \| ∟ Prune Belly Syndrome \| ∟ Rubella Syndrome, Congenital \| ∟ Rubinstein-Taybi Syndrome \| ∟ Short Rib-Polydactyly Syndrome \| ∟ Smith-Lemli-Opitz Syndrome \| ∟ Waardenburg's Syndrome \| ∟ Wolfram Syndrome \| ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease \| ∟ Refsum Disease, Infantile \| ∟ AIDS-Associated Nephropathy \| ∟ Anuria \| ∟ Diabetes Insipidus \| ∟ Diabetic Nephropathies \| ∟ Fanconi Syndrome \| ∟ Hydronephrosis \| ∟ Hyperoxaluria \| ∟ Hypertension, Renal \| ∟ Kidney Cortex Necrosis \| ∟ Kidney Diseases, Cystic \| ∟ Kidney Neoplasms \| ∟ Kidney Papillary Necrosis \| ∟ Nephritis \| ∟ Nephrocalcinosis \| ∟ Nephrolithiasis \| ∟ Nephrosclerosis \| ∟ Nephrosis \| ∟ Perinephritis \| ∟ Renal Artery Obstruction \| ∟ Renal Insufficiency \| ∟ Renal Osteodystrophy \| ∟ Renal Tubular Transport, Inborn Errors \| ∟ Tuberculosis, Renal \| ∟ Uremia \| ∟ Wegener Granulomatosis Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Peroxisomal Disorders ∟ Zellwegers syndrom 81 sidobegrepp ∟ Cholestasis, Intrahepatic \| ∟ Fatty Liver \| ∟ Focal Nodular Hyperplasia \| ∟ Hepatic Insufficiency \| ∟ Hepatic Vein Thrombosis \| ∟ Hepatic Veno-Occlusive Disease \| ∟ Hepatitis \| ∟ Hepatolenticular Degeneration \| ∟ Hepatopulmonary Syndrome \| ∟ Hepatorenal Syndrome \| ∟ Hypertension, Portal \| ∟ Liver Abscess \| ∟ Liver Cirrhosis \| ∟ Liver Diseases, Alcoholic \| ∟ Liver Diseases, Parasitic \| ∟ Liver Neoplasms \| ∟ Peliosis Hepatis \| ∟ Porphyrias, Hepatic \| ∟ Tuberculosis, Hepatic \| ∟ Alagille Syndrome \| ∟ Angelman Syndrome \| ∟ Bardet-Biedl Syndrome \| ∟ Basal Cell Nevus Syndrome \| ∟ Beckwith-Wiedemann Syndrome \| ∟ Bloom Syndrome \| ∟ Branchio-Oto-Renal Syndrome \| ∟ Cockayne Syndrome \| ∟ Cri-du-Chat Syndrome \| ∟ De Lange Syndrome \| ∟ Down Syndrome \| ∟ Ectodermal Dysplasia \| ∟ Gardner Syndrome \| ∟ Holoprosencephaly \| ∟ Incontinentia Pigmenti \| ∟ Laurence-Moon Syndrome \| ∟ LEOPARD Syndrome \| ∟ Marfan Syndrome \| ∟ Mobius Syndrome \| ∟ Nail-Patella Syndrome \| ∟ Oculocerebrorenal Syndrome \| ∟ Orofaciodigital Syndromes \| ∟ POEMS Syndrome \| ∟ Prader-Willi Syndrome \| ∟ Proteus Syndrome \| ∟ Prune Belly Syndrome \| ∟ Rubella Syndrome, Congenital \| ∟ Rubinstein-Taybi Syndrome \| ∟ Short Rib-Polydactyly Syndrome \| ∟ Smith-Lemli-Opitz Syndrome \| ∟ Waardenburg's Syndrome \| ∟ Wolfram Syndrome \| ∟ Acatalasia \| ∟ Adrenoleukodystrophy \| ∟ Chondrodysplasia Punctata, Rhizomelic \| ∟ Refsum Disease \| ∟ Refsum Disease, Infantile \| ∟ AIDS-Associated Nephropathy \| ∟ Anuria \| ∟ Diabetes Insipidus \| ∟ Diabetic Nephropathies \| ∟ Fanconi Syndrome \| ∟ Hydronephrosis \| ∟ Hyperoxaluria \| ∟ Hypertension, Renal \| ∟ Kidney Cortex Necrosis \| ∟ Kidney Diseases, Cystic \| ∟ Kidney Neoplasms \| ∟ Kidney Papillary Necrosis \| ∟ Nephritis \| ∟ Nephrocalcinosis \| ∟ Nephrolithiasis \| ∟ Nephrosclerosis \| ∟ Nephrosis \| ∟ Perinephritis \| ∟ Renal Artery Obstruction \| ∟ Renal Insufficiency \| ∟ Renal Osteodystrophy \| ∟ Renal Tubular Transport, Inborn Errors \| ∟ Tuberculosis, Renal \| ∟ Uremia \| ∟ Wegener Granulomatosis X
Bredare villkor:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Abnormalities ∟ Abnormalities, Multiple ∟ Zellwegers syndrom Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Zellwegers syndrom Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Peroxisomal Disorders ∟ Zellwegers syndrom Medical Subject Headings (MeSH) ∟ Digestive System Diseases ∟ Liver Diseases ∟ Zellwegers syndrom Medical Subject Headings (MeSH) ∟ Female Urogenital Diseases and Pregnancy Complications ∟ Female Urogenital Diseases ∟ Urologic Diseases ∟ Kidney Diseases ∟ Zellwegers syndrom Medical Subject Headings (MeSH) ∟ Male Urogenital Diseases ∟ Urologic Diseases ∟ Kidney Diseases ∟ Zellwegers syndrom Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Central Nervous System Diseases ∟ Brain Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Zellwegers syndrom Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Brain Diseases, Metabolic ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Zellwegers syndrom Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Brain Diseases, Metabolic, Inborn ∟ Peroxisomal Disorders ∟ Zellwegers syndrom Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Peroxisomal Disorders ∟ Zellwegers syndrom Abnormalities, Multiple > Abnormalities > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Peroxisomal Disorders > Brain Diseases, Metabolic, Inborn > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Peroxisomal Disorders > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Liver Diseases > Digestive System Diseases > Medical Subject Headings (MeSH) Kidney Diseases > Urologic Diseases > Female Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Medical Subject Headings (MeSH) Kidney Diseases > Urologic Diseases > Male Urogenital Diseases > Medical Subject Headings (MeSH) Peroxisomal Disorders > Brain Diseases, Metabolic, Inborn > Brain Diseases, Metabolic > Brain Diseases > Central Nervous System Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) Peroxisomal Disorders > Brain Diseases, Metabolic, Inborn > Brain Diseases, Metabolic > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Peroxisomal Disorders > Brain Diseases, Metabolic, Inborn > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Peroxisomal Disorders > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) X
Anmärkning:	Abnormalities, Multiple (1968-1988) \| Brain Diseases (1966-1988) \| Kidney Diseases (1966-1988) \| Liver Diseases (1966-1988)X
Anmärkning:	An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis. X
historyNote*:	1989 X
publicMeSHNote*:	1989 X
activeMeSHYear*:	2007X
dateCreated*:	1988-05-04X
dateEstablished*:	1989-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	lktX
recordOriginator*:	ECX
Typ:	Concept X
Samordna villkor:	Cholestasis, Intrahepatic \| Fatty Liver \| Focal Nodular Hyperplasia \| Hepatic Insufficiency \| Hepatic Vein Thrombosis \| Hepatic Veno-Occlusive Disease \| Hepatitis \| Hepatolenticular Degeneration \| Hepatopulmonary Syndrome \| Hepatorenal Syndrome \| Hypertension, Portal \| Liver Abscess \| Liver Cirrhosis \| Liver Diseases, Alcoholic \| Liver Diseases, Parasitic \| Liver Neoplasms \| Peliosis Hepatis \| Porphyrias, Hepatic \| Tuberculosis, Hepatic \| Alagille Syndrome \| Angelman Syndrome \| Bardet-Biedl Syndrome \| Basal Cell Nevus Syndrome \| Beckwith-Wiedemann Syndrome \| Bloom Syndrome \| Branchio-Oto-Renal Syndrome \| Cockayne Syndrome \| Cri-du-Chat Syndrome \| De Lange Syndrome \| Down Syndrome \| Ectodermal Dysplasia \| Gardner Syndrome \| Holoprosencephaly \| Incontinentia Pigmenti \| Laurence-Moon Syndrome \| LEOPARD Syndrome \| Marfan Syndrome \| Mobius Syndrome \| Nail-Patella Syndrome \| Oculocerebrorenal Syndrome \| Orofaciodigital Syndromes \| POEMS Syndrome \| Prader-Willi Syndrome \| Proteus Syndrome \| Prune Belly Syndrome \| Rubella Syndrome, Congenital \| Rubinstein-Taybi Syndrome \| Short Rib-Polydactyly Syndrome \| Smith-Lemli-Opitz Syndrome \| Waardenburg's Syndrome \| Wolfram Syndrome \| Acatalasia \| Adrenoleukodystrophy \| Chondrodysplasia Punctata, Rhizomelic \| Refsum Disease \| Refsum Disease, Infantile \| AIDS-Associated Nephropathy \| Anuria \| Diabetes Insipidus \| Diabetic Nephropathies \| Fanconi Syndrome \| Hydronephrosis \| Hyperoxaluria \| Hypertension, Renal \| Kidney Cortex Necrosis \| Kidney Diseases, Cystic \| Kidney Neoplasms \| Kidney Papillary Necrosis \| Nephritis \| Nephrocalcinosis \| Nephrolithiasis \| Nephrosclerosis \| Nephrosis \| Perinephritis \| Renal Artery Obstruction \| Renal Insufficiency \| Renal Osteodystrophy \| Renal Tubular Transport, Inborn Errors \| Tuberculosis, Renal \| Uremia \| Wegener Granulomatosis X
URI:	X
Termer och motsvarande begrepp:	Zellwegerin oireyhtymä (fi) Zellwegerin syndrooma (fi, ersatt) Syndroma cerebrohepatorenale (fi, ersatt) Zellweger Syndrome (en) Zellweger's Syndrome (en, ersatt) Cerebrohepatorenal Syndrome (en, ersatt) Zellweger Disease (en, ersatt) Cerebro-Hepato-Renal Syndrome (en, ersatt) Syndroma Zellweger (la-FI, ersatt) X
Dela:	X