73701-5
LOINC Code
| LOINC code | 73701-5 | |
|---|---|---|
| name | ||
| 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 | Blood; Chemistry; DBS; Dried blood spot; Filter paper; FP; Impression; Impression/interpretation of study; Impressions; Interp; Interpretation; MCD; Mult; Multi; Nominal; Point in time; Random; WB; Whole blood | |
Basic Attributes | ||
| class | CHEM | |
| type | 1 Laboratory | |
| order vs. observation | MCD DBS-Imp | |
History/Usage | ||
| first released | ||
| last updated | 2.56 | |
| last change type | MIN - change to field other than name | |
Related Names | ||
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