loading...| Preferred Name |
Holoprosencephaly |
|
| Synonyms |
|
|
| Definitions |
A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. |
|
| ID |
http://www.phoc.org.cn/pmo/class/PMO_00085538 |
|
| Database_Cross_Reference |
MTHICD9:742.2 SNM:M-20220 DO:DOID:0110881 MTH:NOCODE RCD:P225. SNOMEDCT_US:44519006 OMIM:236100 MSH:D016142 SNMI:D4-01520 ICD10CM:Q04.2 SNOMEDCT_US:30915001 MDR:10056304 LCH_NW:sh89007234 OMIM:MTHU000059 CSP:0723-2277 NDFRT:N0000003376 NCI:C74988 ICD10:Q04.2 OMIM:MTHU026541 NCI_NICHD:C74988 HPO:HP:0001360 MEDCIN:218980 ICD10AM:Q04.2 DO:DOID:4621 CHV:0000015186 |
|
| Definition |
A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. |
|
| label |
Holoprosencephaly |
|
| MCID |
MC00041127 |
|
| PMOID |
PMO:00085538 |
|
| prefixIRI |
pmo:PMO_00085538 |
|
| prefLabel |
Holoprosencephaly |
|
| Synonym |
Holoprosencephaly [Disease/Finding] Single brain ventricle Holoprosencephaly sequence Holoprosencephalies HPEC holoprosencephaly 1 Holoprosencephaly sequence (disorder) Holoprosencephaly Sequence Familial alobar holoprosencephaly holoprosencephaly (diagnosis) holoprosencephaly Holoprosencephaly (HPE) Familial alobar holoprosencephaly -RETIRED- HPE1 Familial alobar holoprosencephaly (disorder) HPE - Holoprosencephaly HPE, FAMILIAL |
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| Tree Number |
T9.8.3.7.8.10 T9.8.3.9.17 T9.18.3.32.1 T9.8.4.32.17 T9.8.3.1.54 T9.21.16.10.1 T9.3.6.8.10 T9.8.3.20.10.1 |
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00039944 http://www.phoc.org.cn/pmo/class/PMO_00036529 |