Application Version: 4.0.6.9
Content Version: 2024.01.20
Release Notes [PDF285KB]
User Guide [PDF6.08MB]
Code System Update Calendar [PDF161KB]
Contact Us
Subscribe
Related Links
- PHIN Vocabulary Services
- Quick Links / Mapping Tools
- External Standards Resources
- Message Guides
- Developer's Guide
Downloads
- RCMT Quick Search
Code System Concept
Code System Concept Code | 723552005 |
Code System Concept Name | Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) |
Code System Preferred Concept Name | Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) |
Concept Status | Published |
Concept Status Date | 03/01/2024 |
Code System Name | SNOMED-CT |
Concept Details
Code System Code | PH_SNOMED-CT |
Code System OID | 2.16.840.1.113883.6.96 |
HL7 Table 0396 Code | SCT |
Superseded By Concept | |
SDO Concept Status | Active |
SDO Concept Status Date | 07/31/2017 |
SDO Date Created | 07/31/2017 |
SDO Date Revised | 07/31/2017 |
Description | A very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycaemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3425074010 | Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency | Active | Synonym | false | false |
3425075011 | Transient neonatal multiple acyl-CoA dehydrogenase deficiency | Active | Synonym | false | false |
3425076012 | Transient neonatal glutaric acidemia type 2 | Active | Synonym | false | false |
3425077015 | Transient neonatal glutaric acidaemia type 2 | Active | Synonym | false | false |
3425078013 | Transient neonatal glutaric aciduria type 2 | Active | Synonym | false | false |
3425079017 | Transient neonatal MAD (multiple acyl-coenzyme A dehydrogenase) deficiency | Active | Synonym | false | false |
Parent Concepts
No parent concepts present.
|
Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
|
Application Version: 4.0.6.9
Content Version: 2024.01.20
Release Notes [PDF285KB]
User Guide [PDF6.08MB]
Code System Update Calendar [PDF161KB]
Contact Us
Subscribe
Related Links
- PHIN Vocabulary Services
- Quick Links / Mapping Tools
- External Standards Resources
- Message Guides
- Developer's Guide
Downloads
- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: