| Niveau/ Type |
Code |
Weergavenaam |
Codesysteem |
Benamingen |
Omschrijving |
| 0‑L |
20957000
|
Disorder of carbohydrate metabolism (disorder)
|
SNOMED CT |
|
Koolhydraatstofwisselingsziekten |
| 1‑L |
29633007
|
Glycogeenstapelingsziekte
|
SNOMED CT |
|
|
| 2‑L |
7265005
|
Glycogen storage disease, type I (disorder)
|
SNOMED CT |
|
|
| 3‑L |
444707001
|
Glycogen storage disease type Ia (disorder)
|
SNOMED CT |
|
|
| 3‑L |
30102006
|
Glucose-6-phosphate transport defect (disorder)
|
SNOMED CT |
|
|
| 2‑L |
274864009
|
Glycogen storage disease, type II (disorder)
|
SNOMED CT |
|
|
| 2‑L |
66937008
|
Glycogen storage disease, type III (disorder)
|
SNOMED CT |
|
|
| 1‑L |
190745006
|
Galactosemia (disorder)
|
SNOMED CT |
|
|
| 0‑L |
44779003
|
Disorder of amino acid metabolism (disorder)
|
SNOMED CT |
|
Aminoacidopathieën |
| 1‑L |
7573000
|
Classical phenylketonuria (disorder)
|
SNOMED CT |
|
|
| 1‑L |
85020001
|
Cystinuria (disorder)
|
SNOMED CT |
|
|
| 1‑L |
190694001
|
tyrosinemie (aandoening)
|
SNOMED CT |
|
|
| 1‑L |
410056006
|
tyrosinemie type 1 (aandoening)
|
SNOMED CT |
|
|
| 1‑L |
4887000
|
Hypertyrosinemia, Richner-Hanhart type (disorder)
|
SNOMED CT |
|
|
| 1‑L |
11282001
|
Homocystinuria (disorder)
|
SNOMED CT |
|
|
| 1‑L |
13144005
|
Methylcrotonyl-coenzyme A carboxylase deficiency (disorder)
|
SNOMED CT |
|
|
| 1‑L |
76175005
|
Glutaric aciduria, type 1 (disorder)
|
SNOMED CT |
|
|
| 0‑L |
116021002
|
Disorder of organic acid metabolism (disorder)
|
SNOMED CT |
|
Organische zuur ziekten |
| 1‑L |
69080001
|
Propionic acidemia (disorder)
|
SNOMED CT |
|
|
| 1‑L |
42393006
|
Methylmalonic acidemia (disorder)
|
SNOMED CT |
|
|
| 1‑L |
87827003
|
Isovaleryl-coenzyme A dehydrogenase deficiency (disorder)
|
SNOMED CT |
|
|
| 1‑L |
27718001
|
Maple syrup urine disease (disorder)
|
SNOMED CT |
|
|
| 1‑S |
28987007
|
Glutaric aciduria (disorder)
|
SNOMED CT |
|
|
| 2‑L |
76175005
|
Glutaric aciduria, type 1 (disorder)
|
SNOMED CT |
|
|
| 2‑L |
22886006
|
Glutaric aciduria, type 2 (disorder)
|
SNOMED CT |
|
|
| 1‑L |
124611007
|
Deficiency of hydroxymethylglutaryl-CoA lyase (disorder)
|
SNOMED CT |
|
|
| 0‑L |
36444000
|
Disorder of the urea cycle metabolism (disorder)
|
SNOMED CT |
|
Ureumcyclusdefecten |
| 1‑L |
80908008
|
Ornithine carbamoyltransferase deficiency (disorder)
|
SNOMED CT |
|
|
| 0‑L |
23585005
|
Disorder of lysosomal enzyme (disorder)
|
SNOMED CT |
|
Lysosomale stapelingsziekten |
| 1‑L |
11380006
|
Mucopolysaccharidosis (disorder)
|
SNOMED CT |
|
|
| 1‑L |
43916004
|
Mucopolysaccharidosis, MPS-VII (disorder)
|
SNOMED CT |
|
|
| 1‑L |
190794006
|
Glucosylceramide beta-glucosidase deficiency (disorder)
|
SNOMED CT |
|
|
| 0‑L |
39929009
|
Disorder of fatty acid metabolism (disorder)
|
SNOMED CT |
|
Vetzuuroxidatiestoornissen |
| 1‑L |
128596003
|
Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder)
|
SNOMED CT |
|
|
| 1‑L |
307127004
|
Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder)
|
SNOMED CT |
|
|
| 1‑L |
237997005
|
Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder)
|
SNOMED CT |
|
|
| 0‑S |
240096000
|
Mitochondrial cytopathy (disorder)
|
SNOMED CT |
|
Mitochondriële ziekten |
| 1‑L |
237988006
|
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency (disorder)
|
SNOMED CT |
|
|
| 1‑L |
237989003
|
Succinate-coenzyme Q reductase deficiency (disorder)
|
SNOMED CT |
|
|
| 1‑L |
237990007
|
ademhalingsketen-complex-3-deficiëntie (aandoening)
|
SNOMED CT |
|
|
| 1‑L |
67434000
|
ademhalingsketen-complex-4-deficiëntie (aandoening)
|
SNOMED CT |
|
|
| 1‑L |
237992004
|
Complex V deficiency (disorder)
|
SNOMED CT |
|
|
| 1‑L |
16851005
|
Mitochondrial myopathy (disorder)
|
SNOMED CT |
|
|
| 1‑L |
39925003
|
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke (disorder)
|
SNOMED CT |
|
|
| 0‑L |
238059005
|
Disorder of peroxisomal function (disorder)
|
SNOMED CT |
|
Peroxisomale ziekten |
| 0‑L |
238006008
|
Disorder of purine and pyrimidine metabolism (disorder)
|
SNOMED CT |
|
Purine- en Pyrimidine ziekten |
| 1‑L |
124275001
|
Deficiency of hypoxanthine phosphoribosyltransferase (disorder)
|
SNOMED CT |
|
|
| 0‑S |
45744005
|
Disorder of mineral metabolism (disorder)
|
SNOMED CT |
|
Metalen |
| 1‑L |
79886009
|
Disorder of copper metabolism (disorder)
|
SNOMED CT |
|
|
| 1‑L |
79886009
|
Disorder of copper metabolism (disorder)
|
SNOMED CT |
|
|
| 1‑L |
30913008
|
Disorder of iron metabolism (disorder)
|
SNOMED CT |
|
|
| 1‑L |
46727001
|
Disorder of zinc metabolism (disorder)
|
SNOMED CT |
|
|
| 1‑L |
59178007
|
Menkes kinky-hair syndrome (disorder)
|
SNOMED CT |
|
|
| 1‑L |
399187006
|
Hemochromatosis (disorder)
|
SNOMED CT |
|
|
| 0‑L |
238049009
|
Carbohydrate-deficient glycoprotein syndrome (disorder)
|
SNOMED CT |
|
Glycosyleringsdefecten (CDG-syndromen) |
| 0‑L |
85670002
|
Vitamin deficiency (disorder)
|
SNOMED CT |
|
Vitamine responsieve aandoeningen/aangeboren vitamine deficienties |
| 1‑L |
190634004
|
Cobalamin deficiency (disorder)
|
SNOMED CT |
|
|
| 1‑L |
15307001
|
Biotin-(propionyl-CoA-carboxylase) ligase deficiency (disorder)
|
SNOMED CT |
|
|
| 1‑L |
8808004
|
Biotinidase deficiency (disorder)
|
SNOMED CT |
|
|
| 1‑L |
386080007
|
Vitamin B6 deficiency (disorder)
|
SNOMED CT |
|
|
| 0‑L |
1821000146108
|
Hereditaire stofwisselingsstoornis
|
SNOMED CT |
|
Andere erfelijke stofwisselingsziekten. |
|
Waardelijst ProbleemNaam_Stofwisselingsziekten 2018‑08‑16 00:30:35
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