loading...| Preferred Name | Multiple carboxylase deficiency | |
| Synonyms |
Multiple carboxylase deficiency (disorder) |
|
| Definitions |
A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency. A group of inborn errors of biotin metabolism characterised by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency. |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/1172966001 |
|
| Active |
1 |
|
| altLabel |
Multiple carboxylase deficiency (disorder) |
|
| CASE SIGNIFICANCE ID |
900000000000448009 |
|
| CTV3ID |
XVGx1 |
|
| cui |
C0026755 |
|
| definition |
A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency. A group of inborn errors of biotin metabolism characterised by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency. |
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| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20210930 |
|
| notation |
1172966001 |
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| Occurs in | ||
| prefLabel |
Multiple carboxylase deficiency |
|
| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPRULE~IFA 360369003 | Holocarboxylase synthase deficiency | 6011000124106~MAPGROUP~1 6011000124106~MAPTARGET~D81.818 447562003~MAPTARGET~E53.8 6011000124106~MAPADVICE~IF BIOTINIDASE DEFICIENCY CHOOSE D81.810 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~D81.819 447562003~MAPADVICE~ALWAYS E53.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 447562003~MAPGROUP~1 900000000000497000~MAPTARGET~XVGx1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPRULE~IFA 8808004 | Biotinidase deficiency | 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPADVICE~IF HOLOCARBOXYLASE SYNTHASE DEFICIENCY CHOOSE D81.818 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPTARGET~D81.810 6011000124106~MAPPRIORITY~3 6011000124106~MAPADVICE~ALWAYS D81.819 6011000124106~MAPPRIORITY~2 |
|
| tui |
T047 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/85995004 http://purl.bioontology.org/ontology/SNOMEDCT/237911005 |