73701-5
Multiple carboxylase deficiency (MCD) newborn screen interpretation
Active
Term 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.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Multiple carboxylase deficiency
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- MCD DBS-Imp
- Display Name
- Multiple carboxylase deficiency (MCD) (DBS) [Interp]
- Consumer Name Alpha Get Info
- Multiple Carboxylase Deficiency (MCD), Dried blood spot
Preferred Answer List: LL840-0
Source: Regenstrief InstituteAnswer | Code | Score | Answer ID |
---|---|---|---|
In range | LA18592-8 | ||
Borderline | LA4259-3 | ||
IndeterminateCopyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
Out of range | LA18593-6 | ||
Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
Out of range requiring immediate referral | LA25817-0 | ||
Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
One or more tests pending | LA16204-2 | ||
Specimen unsatisfactory for at least one condition | LA16205-9 |
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.44
- Last Updated
- Version 2.56
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Deficiencia múltiple a carboxilasa: |
es-MX | Spanish (Mexico) | Deficiencia múltiple de carboxilasa: |
fr-FR | French (France) | Carboxylase carence multiple: |
it-IT | Italian (Italy) | Deficit multiplo di carbossilasi: Synonyms: Chimica Deficit multiplo di carbossilasi (MCD) Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
pt-BR | Portuguese (Brazil) | Carboxilase múltipla deficiência: |
ru-RU | Russian (Russian Federation) | Множественная карбоксилаз недостаточность: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Множественная недостаточность карбоксилаз Номинальный; |
tr-TR | Turkish (Turkey) | Çoklu karboksilaz eksikliği: |
zh-CN | Chinese (China) | 多种羧化酶缺陷症: Synonyms: 众多 众多的 全血斑点(滤纸); |
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