loading...| Preferred Name | Homocystinuria | |
| Synonyms |
|
|
| Definitions |
An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. |
|
| ID |
http://www.phoc.org.cn/pmo/class/PMO_00085276 |
|
| Database_Cross_Reference |
NCI_NICHD:C84765 MTH:NOCODE CSP:1849-0835 LNC:LP56981-1 SNM:D-1681 SNMI:D6-B4100 HPO:HP:0002156 MTHICD9:270.4 NCI:C84765 OMIM:MTHU037510 CHV:0000006228 SNOMEDCT_US:11282001 MDR:10020365 LNC:LA12496-8 SNOMEDCT_US:190709008 DO:DOID:9263 MSH:D006712 DXP:U000854 RCD:C3043 ICPC2P:T99073 CCPSS:0019687 MEDCIN:33524 NDFRT:N0000001552 DXP:U001986 ICD10CM:E72.11 |
|
| Definition |
An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. |
|
| label |
Homocystinuria |
|
| MCID |
MC00006378 |
|
| PMOID |
PMO:00085276 |
|
| prefixIRI |
pmo:PMO_00085276 |
|
| prefLabel |
Homocystinuria |
|
| Synonym |
cystathionine beta synthase deficiency homocystinuria (diagnosis) CBS deficiency High urine homocystine levels HCY cystathionine synthase deficiency Homocystinuria (disorder) Homocystinuria [Disease/Finding] Cystathionine synthase deficiency HOMOCYSTINURIA Homocystinuria, NOS homocystinuria Homocystinuria [Ambiguous] |
|
| Tree Number |
T9.11.2.6.5.1.4.6.1 T9.8.4.14.6.12.1 T9.14.2.13 T9.11.1.12.6.12.1 T9.11.1.12.8.15 T9.11.1.10.9.1 T9.21.15.5.17.2.15 T9.1.2.3.6.9.1 T9.11.1.6.2.15 T9.8.4.14.8.15 |
|
| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00038579 |