Mucopolysaccharidosis type I newborn screening panel:-:Pt:Bld.dot:-:

Preferred Label : Mucopolysaccharidosis type I newborn screening panel:-:Pt:Bld.dot:-:;

LOINC status : ACTIVE;

LOINC display name : Mucopolysaccharidosis type I NBS panel (DBS);

LOINC long common name : Mucopolysaccharidosis type I newborn screening panel;

LOINC short name : MPS I NBS Pnl DBS;

LOINC 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.;

Details

Origin ID

79563-3;

UMLS CUI

C4050493;

Has component
- Mucopolysaccharidosis [LOINC component]
- Mucopolysaccharidosis type I [LOINC component]
- Mucopolysaccharidosis type I newborn screening panel [LOINC component]
- Newborn screening panel [LOINC component]
- Type [LOINC component]
Has system
- Blood [LOINC System]
- DBS [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Panel of LOINC codes
- Alpha-L-iduronidase:CCnc:Pt:Bld.dot:Qn: [LOINC code]
- Mucopolysaccharidosis type I newborn screening comment-discussion:Txt:Pt:Bld.dot:Nar: [LOINC code]
- Mucopolysaccharidosis type I:Imp:Pt:Bld.dot:Nom: [LOINC code]
Part of panel
- Lysosomal storage disorders newborn screening panel:-:Pt:Bld.dot:-: [LOINC code]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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