Mucopolysaccharidosis type I newborn screening panel 79563-3
LOINC Code
| LOINC code | 79563-3 | ||||||
|---|---|---|---|---|---|---|---|
| name | Mucopolysaccharidosis type I newborn screening panel | ||||||
| description | The Mucopolysaccharidosis type I (MPS I) newborn screening panel is used to report the results of newborn screening for the diagnosis of MPS I, also known as Hurler syndrome, an inherited disorder in which the body is unable to produce an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). MPS I is caused by mutations in the IDUA gene and has an autosomal recessive pattern of inheritance. | ||||||
| status | ACTIVE | ||||||
Fully-Specified Name | |||||||
| component | Mucopolysaccharidosis type I newborn screening panel | ||||||
| property | - | ||||||
| time | Pt = Point in time: To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements. | ||||||
| system | Bld.dot = Blood filter paper | ||||||
| scale | - | ||||||
| method | |||||||
Additional Names | |||||||
| short name | MPS I NBS Pnl DBS | ||||||
Basic Attributes | |||||||
| class | PANEL.CHEM | ||||||
| type | 1 Laboratory | ||||||
| order vs. observation | Order | ||||||
Panel Components | |||||||
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Associated Observations | |||||||
LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations. | |||||||
Member of these Panels | |||||||
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History/Usage | |||||||
| first released | |||||||
| last updated | 2.77 | ||||||
| last change type | PANEL - addition or removal of child elements or change in the conditionality of child elements in the panel or in sub-panels contained by the panel. | ||||||
Related Names | |||||||
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