4p16.3 chromosome deletion:Prid:Pt:Bld/Tiss:Nom:FISH

Preferred Label : 4p16.3 chromosome deletion:Prid:Pt:Bld/Tiss:Nom:FISH;

LOINC status : ACTIVE;

LOINC display name : 4p16.3 chromosome del FISH Nom (Bld/Tiss);

LOINC long common name : 4p16.3 chromosome deletion [Identifier] in Blood or Tissue by FISH Nominal;

LOINC short name : 4p16.3 Del Bld/T FISH;

LOINC description : FISH studies are performed to detect a deletion on the short arm of chromosome 4 (4p16.3) in patients, primarily newborns, suspected of having Wolf-Hirschhorn syndrome (WHS). FISH signal pattern indicating a loss of 4p16.3 is consistent with a diagnosis of WHS.;

Details

Origin ID

73749-4;

UMLS CUI

C3654247;

Has component
- 4p16.3 chromosome [LOINC component]
- 4p16.3 chromosome deletion [LOINC component]
- Chromosome [LOINC component]
Has method
- Fluorescent in situ hybridization (FISH) [LOINC method]
Has property
- Presence or Identity [LOINC Property]
Has scale
- Nom [LOINC scale]
Has system
- Blood [LOINC System]
- Blood or Tissue [LOINC System]
- Tissue and Smears [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients