| ID |
http://id.who.int/icd/entity/1539226250 |
| Preferred Name |
Mucopolysaccharidose type 1 |
| Definitions |
Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome (57% of cases) being the most severe, Scheie syndrome (20% of cases) the mildest and Hurler-Scheie syndrome (23% of cases) giving an intermediate phenotype. |
| Type |
http://www.w3.org/2002/07/owl#Class |
| comment | la mucopolysaccharidose de type 1 (mps 1) est une rare maladie de réserve lysosomale appartenant au groupe des mucopolysaccharidoses. il y a trois variants dont la sévérité varie considérablement, le syndrome de hurler (57 % des cas) étant le plus sévère, le syndrome de scheie (20 % des cas) le syndrome le plus doux et le syndrome de hurler-scheie (23 % des cas) qui donne un phénotype intermédiaire. Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome (57% of cases) being the most severe, Scheie syndrome (20% of cases) the mildest and Hurler-Scheie syndrome (23% of cases) giving an intermediate phenotype. mucopolysaccharidosis type 1 (mps 1) is a rare lysosomal storage disease owned to the group of mucopolysaccharidoses. υπάρχουν τρεις παραλλαγές, με διαφορετικό τρόπο στη σοβαρότητά τους, με σύνδρομο εκβιασμού (57% των περιπτώσεων) είναι το πιο σοβαρό, σύνδρομο scheie (20% των περιπτώσεων) το σύνδρομο mildest και hurler-scheie (23% των περιπτώσεων) δίνοντας ένα ενδιάμεσο φαινότυπο. Mukopolysaccharidose Typ 1 (mps 1) ist eine seltene lysosomale Speicherkrankheit, die zur Gruppe der Mukopolysaccharidose gehört. es gibt drei Varianten, die sich in ihrer Schwere stark unterscheiden, wobei das Hurler-Syndrom (57% der Fälle) das schwerste, das Scheie-Syndrom (20% der Fälle) das mildeste und das Hurler-Scheie-Syndrom (23% der Fälle) einen Zwischenphänotyp aufweisen. mucopolysaccharidosis typ 1 (mps 1) jest rzadką lizosomalną chorobą przechowywania należącą do grupy mukopolisacharydazy. istnieją trzy warianty, różniące się szeroko w ich ciężkości, z zespołem hurler (57% przypadków) jest najcięższą, scheie syndrome (20% przypadków) the mildest and hurler-scheie syndrome (23% of cases) giving an intermediate phenotype. |
| IRI | |
| icd11Chapter | 05 |
| broaderTransitive | |
| prefLabel | Mucopolysaccharidose type 1 |
| mms | |
| browserUrl | NA |
| narrowerTransitive | http://id.who.int/icd/entity/1362195023 |
| icd11Code | 5C56.30 |
| label | Mukopolysaccharidose Typ 1 mucopolysaccharidosis typ 1 Mucopolysaccharidosis type 1 Mucopolysaccharidose type 1 τύπος βλέννας τύπου 1 |
| subClassOf |
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