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PMO Precision Medicine Ontology
Last uploaded:
December 16, 2020
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| Preferred Name | Leukodystrophy, Metachromatic | |
| Synonyms |
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| Definitions |
A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00038570 |
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| Database_Cross_Reference |
MTH:NOCODE SNOMEDCT_US:3621006 CSP:1849-5593 SNOMEDCT_US:192784006 NCI:C61251 MTHICD9:330.0 ICD10CM:E75.25 CHV:0000007365 MSH:D007966 NDFRT:N0000001834 SNM:D-1411 DXP:U001175 MDR:10067609 SNMI:D6-74400 OMIM:607574 DO:DOID:10581 LCH:U002670 OMIM:250100 RCD:F1003 ICD10CM:E75.29 LCH_NW:sh85076299 SNOMEDCT_US:44359008 MEDCIN:32030 DXP:NOCODE SNOMEDCT_US:396338004
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| Definition |
A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system.
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| label |
Leukodystrophy, Metachromatic
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| MCID |
MC00007515
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| PMOID |
PMO:00038570
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| prefixIRI |
pmo:PMO_00038570
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| prefLabel |
Leukodystrophy, Metachromatic
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| Synonym |
Metachromatic Leukoencephalopathy ARYLSULFATASE A DEFIC DIS MLD, NOS Sulphatide lipidosis Severe deficiency of arylsulfatase Cerebral sclerosis, Diffuse, Metachromatic Form Scholz-Bielschowsky-Henneberg diffuse cerebral sclerosis Metachromatic leukodystrophy, NOS mld CEREBROSIDE SULPHATASE DEFIC DIS Leukoencephalopathies, Metachromatic MLD - Metachromatic leucodystrophy CEREBROSIDE SULFATASE DEFICIENCY Scholz cerebral sclerosis Sulfatide lipidosis, NOS Sulfatide Lipidosis leukodystrophy metachromatic Sulfatide lipidosis Cerebroside Sulphatase Deficiency Disease Metachromatic Leukodystrophy Metachromatic leukodystrophy Lipidosis, Sulfatide METACHROMATIC LEUKOENCEPHALOPATHY LEUKOENCEPHALOPATHY, METACHROMATIC metachromatic leukodystrophy Metachromatic Leukodystrophies deficiency of cerebroside-sulfatase Leukodystrophies, Metachromatic van Bogaert-Nijssen disease Metachromatic leukoencephaly CEREBRAL SCLEROSIS, DIFFUSE, METACHROMATIC FORM metachromatic leukoencephalopathy metachromatic leukodystrophy (diagnosis) Leukodystrophy, metachromatic MLD Metachromatic Leukoencephalopathies Leukoencephalopathy, Metachromatic metachromatic leukoencephaly Leukodystrophy, Metachromatic [Disease/Finding] arylsulfatase A deficiency Familial progressive cerebral sclerosis Metachromatic leucodystrophy (disorder) sulfatide lipoidosis Arylsulfatase A Deficiency Disease MLD-Metachromatic leucodystrop metachromatic leucodystrophy Metachromatic leukodystrophy (disorder) Metachromatic leukodystrophy (disorder) [Ambiguous] METACHROMATIC LEUKODYSTROPHY Metachromatic leucodystrophy SULFATIDE LIPIDOSIS
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| Tree Number |
T9.11.1.2.2.4.8.2 T9.8.4.14.7.5.4.8.2 T9.11.1.2.6.5.4.8.2 T9.11.1.6.2.19.5.8.2 T9.11.1.6.2.5.1 T9.8.4.44.6.1 T9.8.4.14.8.5.1 T9.21.15.5.17.2.19.5.8.2 T9.8.4.14.3.7.5.8.2 T9.21.14.7.1 T9.21.15.5.17.2.5.1 T9.8.4.14.8.19.5.8.2 T9.21.15.5.5.5.1 T9.11.1.12.8.19.5.8.2 T9.21.4.2.6.1 T9.11.1.12.7.5.4.8.2 T9.11.1.12.8.5.1 T9.11.1.12.3.7.5.8.2
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