Chromosome region 17p11.2 deletion:Find:Pt:Bld/Tiss:Doc:FISH

Preferred Label : Chromosome region 17p11.2 deletion:Find:Pt:Bld/Tiss:Doc:FISH;

LOINC status : ACTIVE;

LOINC display name : 17p11.2 del FISH Doc (Bld/Tiss);

LOINC long common name : Chromosome region 17p11.2 deletion in Blood or Tissue by FISH;

LOINC short name : Chr 17p11.2 Del Bld/T FISH;

LOINC description : FISH studies are performed using a probe targeting the p11.2 region on chromosome 17 to detect a deletion consistent with a diagnosis of 17p11.2 deletion (Smith-Magenis) syndrome. Additional signals are consistent with a diagnosis of 17p11.2 duplication (Potocki-Lupski) syndrome. LOINC codes with a Scale of Doc can be used for the order and to represent the overall report and collection of results (clinical indication, method, overall findings, ISCN result, interpretation, etc.).;

Details

Origin ID

95551-8;

UMLS CUI

C5425130;

Has component
- Chromosome [LOINC component]
- Chromosome region 17p11.2 [LOINC component]
- Chromosome region 17p11.2 deletion [LOINC component]
- Cytogenetic location [LOINC component]
- Region [LOINC component]
Has method
- Fluorescent in situ hybridization (FISH) [LOINC method]
Has property
- Finding [LOINC Property]
Has scale
- Doc [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) :

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