Properties and units in the clinical laboratory sciences part XXIV. Properties and units in clinical molecular genetics (technical report 2017).

This document describes the application of the syntax, semantic rules, and format of the Nomenclature for Properties and Units (NPU) terminology for coded dedicated kinds-of-property in the subject field of clinical molecular genetics. A vocabulary for NPU definitions in this field, based on international terminology and nomenclature, is introduced; examples of actual NPU definitions for different types of investigations are given and explained.

[1]  Ulla Magdal Petersen,et al.  Properties and units in the clinical laboratory sciences. Part XXIII. The NPU terminology, principles, and implementation: A user’s guide (IUPAC Technical Report) , 2011 .

[2]  S. Bojesen,et al.  Properties and units in the clinical laboratory sciences. Part XVIII. Properties and units in clinical molecular biology (IUPAC Technical Report) , 2004 .

[3]  eiko Bundo,et al.  Properties and units in the clinical laboratory sciences-I. Syntax and semantic rules (IUPAC-IFCC Recommendations 1995) , 1996, Clinica chimica acta; international journal of clinical chemistry.

[4]  J. C. Rigg Compendium of terminology and nomenclature of properties in clinical laboratory sciences : recommendations 1995 , 1995 .

[5]  M Schwab,et al.  Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting , 2016, Clinical pharmacology and therapeutics.

[6]  D. Kenny,et al.  Properties and units in the clinical laboratory sciences II. Kinds-of-property (IUPAC Recommendations 1997) , 1997 .

[7]  Raymond Dalgleish,et al.  HGVS Recommendations for the Description of Sequence Variants: 2016 Update , 2016, Human mutation.

[8]  G. Hill,et al.  Properties and units in the clinical laboratory sciences VI. Properties and units in IOC prohibited drugs (Technical Report) , 1997 .

[9]  S S Stevens,et al.  On the Theory of Scales of Measurement. , 1946, Science.

[10]  Henrik Olesen,et al.  Properties and units in the clinical laboratory sciences: Part XI. Coding systems - structure and guidelines (Technical Report) , 1997 .

[11]  X. Fuentes-Arderiu,et al.  Vocabulary on nominal property, examination, and related concepts for clinical laboratory sciences (IFCC-IUPAC Recommendations 2017) , 2018 .

[12]  M. Nordberg,et al.  Properties and units in the clinical laboratory sciences Part XX. Properties and units in clinical and environmental human toxicology (IUPAC Technical Report) , 2007 .

[13]  Z. Tümer,et al.  Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains , 2018, Epigenetics.