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SNOMED CT coding variation and grouping for "other findings" in a longitudinal study on urea cycle disorders.

ABSTRACT: Semantic interoperability requires consistent use of controlled terminologies. However, non-terminology experts (although perhaps experts in a particular domain) are prone to produce variant coding. We examine this problem by investigating SNOMED CT coding variation for other findings reported on case report forms from a clinical research study on urea cycle disorders. The natural language findings from the forms were normalized, and the associated SNOMED CT concept descriptions were compared. The subset of normalized strings associated with two different concept descriptions were further compared to determine the relationship among the associated SNOMED CT concepts. We found 45% of the concept description pairs were associated with two hierarchically related concepts or with the same concept, while 55% were associated with two unrelated concepts. Clearer guidelines for use of SNOMED CT in particular contexts, or structured data entry tools tailored to the needs of non-expert coders, are needed to better manage coding variation.

SUBMITTER: Patrick TB

PROVIDER: S-EPMC2656069 | biostudies-other | 2008 Nov

REPOSITORIES: biostudies-other

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SNOMED CT coding variation and grouping for "other findings" in a longitudinal study on urea cycle disorders.

Patrick Timothy B TB Richesson Rachel R Andrews James E JE Folk Lillian C LC

AMIA ... Annual Symposium proceedings. AMIA Symposium 20081106

Semantic interoperability requires consistent use of controlled terminologies. However, non-terminology experts (although perhaps experts in a particular domain) are prone to produce variant coding. We examine this problem by investigating SNOMED CT coding variation for other findings reported on case report forms from a clinical research study on urea cycle disorders. The natural language findings from the forms were normalized, and the associated SNOMED CT concept descriptions were compared. T ...[more]

PMID: 18998949

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Project description:Urea cycle disorders are a group of inborn errors of hepatic metabolism that result in often life-threatening hyperammonemia and hyperglutaminemia. Clinical and laboratory diagnosis of partial deficiencies during asymptomatic periods is difficult, and correlation of phenotypic severity with either genotype and/or in vitro enzyme activity is often imprecise. We hypothesized that stable isotopically determined in vivo rates of total body urea synthesis and urea cycle-specific nitrogen flux would correlate with both phenotypic severity and carrier status in patients with a variety of different enzymatic deficiencies of the urea cycle. We studied control subjects, patients, and their relatives with different enzymatic deficiencies affecting the urea cycle while consuming a low protein diet. On a separate occasion the subjects either received a higher protein intake or were treated with an alternative route medication sodium phenylacetate/benzoate (Ucephan), or oral arginine supplementation. Total urea synthesis from all nitrogen sources was determined from [(18)O]urea labeling, and the utilization of peripheral nitrogen was estimated from the relative isotopic enrichments of [(15)N]urea and [(15)N]glutamine during i.v. co-infusions of [5-(amide)(15)N]glutamine and [(18)O]urea. The ratio of the isotopic enrichments of (15)N-urea/(15)N-glutamine distinguished normal control subjects (ratio = 0.42 +/- 0.06) from urea cycle patients with late (0.17 +/- 0.03) and neonatal (0.003 +/- 0.007) presentations irrespective of enzymatic deficiency. This index of urea cycle activity also distinguished asymptomatic heterozygous carriers of argininosuccinate synthetase deficiency (0. 22 +/- 0.03), argininosuccinate lyase deficiency (0.35 +/- 0.11), and partial ornithine transcarbamylase deficiency (0.26 +/- 0.06) from normal controls. Administration of Ucephan lowered, and arginine increased, urea synthesis to the degree predicted from their respective rates of metabolism. The (15)N-urea/(15)N-glutamine ratio is a sensitive index of in vivo urea cycle activity and correlates with clinical severity. Urea synthesis is altered by alternative route medications and arginine supplementation to the degree that is to be expected from theory. This stable isotope protocol provides a sensitive tool for evaluating the efficacy of therapeutic modalities and acts as an aid to the diagnosis and management of urea cycle patients.

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SNOMED CT coding variation and grouping for "other findings" in a longitudinal study on urea cycle disorders.

Publications

SNOMED CT coding variation and grouping for "other findings" in a longitudinal study on urea cycle disorders.

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