Multiple carboxylase deficiency (MCD) newborn screen interpretation 73701-5
LOINC Code
| LOINC code | 73701-5 | ||
|---|---|---|---|
| name | Multiple carboxylase deficiency (MCD) newborn screen interpretation | ||
| description | Multiple carboxylase deficiency (MCD), also known as holocarboxylase synthetase deficiency, is an inherited disorder in which the body is unable to use the vitamin biotin effectively. It is caused by mutations in the HLCS gene and has an autosomal recessive pattern of inheritance. This observation indicates whether the newborn screen was in-range or out-of-range for the analytes related to multiple carboxylase deficiency. | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | Multiple carboxylase deficiency | ||
| property | Imp = Impression/interpretation of study | ||
| time | Pt = Point in time: To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements. | ||
| system | Bld.dot = Blood filter paper | ||
| scale | Nom = Nominal: Nominal or categorical responses that do not have a natural ordering. (e.g., names of bacteria, reported as answers, categories of appearance that do not have a natural ordering, such as, yellow, clear, bloody. | ||
| method | |||
Additional Names | |||
| short name | MCD DBS-Imp | ||
Basic Attributes | |||
| class | CHEM | ||
| type | 1 Laboratory | ||
| order vs. observation | Observation | ||
Associated Observations | |||
LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations. | |||
History/Usage | |||
| first released | |||
| last updated | 2.56 | ||
| last change type | MIN - change to field other than name | ||
| change reason | Changed answer list from "Normative" to "Preferred" to fit the current LOINC model. | ||
Related Names | |||
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