104027-8
Bile acid malabsorption panel
Active
59462-2 Clinical biochemist review of results
Term Description
Although we created these terms, we feel that NOM terms can be used for narrative reports.
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Clinical biochemist review
- Property
- Imp
- Time
- Pt
- System
- XXX
- Scale
- Nar
- Method
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.32
- Last Updated
- Version 2.73 (MIN)
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 2212
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104027-8 | Bile acid malabsorption panel |
| 100428-2 | Carnitine free and total and acylcarnitine panel - Urine |
| 104535-0 | Cobalamin, Methionine and Methylmalonic Acid Pathways Panel - Serum or Plasma |
| 81232-1 | Supersaturation panel - 24 hour Urine |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Komm.klin.Chemie |
| el-GR | Greek (Greece) | Κλινική βιοχημική ανασκόπηση: Synonyms: Imp Κλινική βιοχημική ανασκόπηση |
| es-MX | Spanish (Mexico) | Revisión de bioquímicos clínicos: |
| es-ES | Spanish (Spain) | Revisión bioquímico clínico: |
| fr-FR | French (France) | Revue biochimie clinique: |
| fr-BE | French (Belgium) | Commentaire du biochimiste: |
| fr-CA | French (Canada) | Commentaire du biochimiste: |
| it-IT | Italian (Italy) | Biochimico clinico, esame: Synonyms: Chimica Esame di biochimico clinico Impressione/interpretazione di studio Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | beoordeling door klinisch chemicus: |
| pt-BR | Portuguese (Brazil) | Revisões do bioquímico clínico: |
| ru-RU | Russian (Russian Federation) | Клиничесий биохимик заключение: Synonyms: Впечатление/интерпретация исследования Клиничесий биохимик комментарий Описательный Точка во времени; |
| tr-TR | Turkish (Turkey) | Klinik Biyokimyacı Değerlendirmesi: |
| zh-CN | Chinese (China) | 临床生物化学家审核: Synonyms: 不明的; |
94866-1 7-Alpha hydroxy-4-cholesten-3-one [Mass/volume] in Serum or Plasma
Part Descriptions
LP310330-8 7-Alpha hydroxy-4-cholesten-3-one
The detection of plasma or blood ketosterol bile acid precursors, specifically 7alpha-hydroxy-4-cholesten-3-one, 7alpha,12alpha-dihydroxy-4-cholesten-3-one and 7alpha,12alpha-dihydroxy-5beta-cholestan-3-one, is sensitive for the diagnosis of cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive disorder of bile acid synthesis that causes neurodegeneration and premature death. CTX is associated with a deficiency in the mitochondria enzyme, sterol 27-hydroxylase (CYP27A1), which converts cholesterol to bile acids. Symptoms include diarrhea and juvenile cataracts in children, progressing to tendon and cerebral xanthomas with neurological deterioration and death. Because there is an effective therapy (oral replacement of chenodeoxycholic acid, the main bile acid deficient in CTX), it is critical to diagnose as early as possible. Prior to the more sensitive ketosterol bile acid precursors, diagnosis had depended on measurement of elevated 5-alpha-cholestanol PMID: 24769274.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- 7-Alpha hydroxy-4-cholesten-3-one
- Property
- MCnc
- Time
- Pt
- System
- Ser/Plas
- Scale
- Qn
- Method
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.68
- Last Updated
- Version 2.68 (ADD)
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104027-8 | Bile acid malabsorption panel |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG51011-1 | 7-Alpha hydroxy-4-cholesten-3-one| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| el-GR | Greek (Greece) | 7-α υδροξυ-4-χοληστεν-3-όνη: Synonyms: 7-α υδροξυ-4-χοληστεν-3-όνη MCnc |
| es-MX | Spanish (Mexico) | 7-alfa hidroxi-4-colesten-3-ona: |
| es-ES | Spanish (Spain) | 7-Alfa hidroxi-4-colesten-3-ona: Synonyms: Cuantitativo |
| fr-FR | French (France) | 7-alpha hydroxy-4-cholestène-3-one: |
| it-IT | Italian (Italy) | 7-Alfa-idrossi-4-colestene-3-one: Synonyms: 7α-idrossi-4-colestene-3-one Chimica Concentrazione di Massa Plasma Punto nel tempo (episodio) Siero Siero o Plasma |
| zh-CN | Chinese (China) | 7-Alpha 羟基-4-胆甾烯-3-酮: Synonyms: Ⅲ 7-α 羟基-4-胆甾烯-3-酮; |
Example Units
| Unit | Source |
|---|---|
| ng/mL | Example UCUM Units |
103710-0 Chenodeoxycholate+Cholate/Bile acid.total in Stool
Fully-Specified Name
- Component
- Chenodeoxycholate+Cholate/Bile acid.total
- Property
- SFr
- Time
- Pt
- System
- Stool
- Scale
- Qn
- Method
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.77
- Last Updated
- Version 2.77 (ADD)
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104027-8 | Bile acid malabsorption panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| el-GR | Greek (Greece) | Χηνοδεοξυχολικό+Χολικό/Χολικό οξύ.ολικό: Synonyms: SFr |
| es-ES | Spanish (Spain) | Quenodeoxicolato + colato/Ácido biliar total: Synonyms: Cuantitativo |
| fr-FR | French (France) | Chénodéoxycholate+cholate/acides biliaires totaux: |
| it-IT | Italian (Italy) | Chenodeossicolato+Colato/Acido biliare.totale: Synonyms: Acidi biliari Chimica Frazione di Sostanza Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 鹅去氧胆酸+胆酸/胆汁酸.总计: Synonyms: BA; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |