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PMO Precision Medicine Ontology
Last uploaded:
December 16, 2020
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| Preferred Name | Down Syndrome | |
| Synonyms |
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| Definitions |
A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00040029 |
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| Database_Cross_Reference |
SNOMEDCT_US:157019002 SNOMEDCT_US:205618003 NCI:C101222 MEDCIN:30421 MTH:NOCODE ICD10:Q90.9 AOD:0000005004 NCI_NICHD:C101222 LNC:LP19800-9 COSTAR:U000198 CHV:0000004101 DXP:U000991 DO:DOID:14250 SNOMEDCT_US:254263008 LNC:LP70386-5 LCH:U001453 DXP:U000489 LNC:MTHU020584 PSY:31880 ICD10AM:Q90 SNOMEDCT_US:205614001 MTHICD9:758.0 ICD10AM:Q90.9 LNC:LA20088-3 CST:MENTAL RETARD NCI_NCI-GLOSS:CDR0000045488 MDR:10027816 SNMI:D4-02214 MDR:10042801 PSY:54340 MSH:D004314 MDR:10044688 ICD10CM:Q90 RCD:XE1MZ NCI_NICHD:C2993 CSP:1254-8068 NDFRT:N0000000996 CCPSS:0037265 ICD10CM:Q90.9 ICPC2P:A90001 JABL:203 PSY:15020 ICPC2P:A90004 ICD10:Q90 MDR:10013616 ICD9CM:758.0 DXP:NOCODE MEDLINEPLUS:217 RCD:X78Ek SNOMEDCT_US:41040004 SNM:D-5712 OMIM:190685 NCI:C2993 LCH_NW:sh85039232 AOD:0000023258 LNC:MTHU010201
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|
| Definition |
A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.
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| label |
Down Syndrome
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| MCID |
MC00004161
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| PMOID |
PMO:00040029
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| prefixIRI |
pmo:PMO_00040029
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| prefLabel |
Down Syndrome
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| Synonym |
Trisomy G Downs syndrome Down's Syndrome Down's syndrome NOS (disorder) Trisomy 21 Syndrome Down's syndrome chromosome 21 trisomy syndrome Down syndrome Chromosome 21 trisomy Downs Syndrome Down's syndrome NOS Down's syndrome (disorder) Langdon Down syndrome Complete Trisomy 21 Syndrome Trisomy 21 syndrome TRISOMY 21 SYNDROME Complete trisomy 21 syndrome Down Syndrome [Disease/Finding] 47,XX,+21 morbus down Syndrome Down's MONGOLOIDISM trisomy 21 Down syndrome morbus Down Syndrome, Down mongoloidism trisomy 21 syndrome congenital acromicria syndrome Down syndrome, unspecified Trisomy 21 NOS Trisomy 21 Down's syndrome, unspecified Trisomy 21 (Down Syndrome) 47,XY,+21 trisomy 21 Down syndrome (diagnosis) Chromosomal imbalance syndrome, pair 21, trisomy MONGOLISM 21 trisomies Down's syndrome - trisomy 21 mongolism downing syndrome DOWN SYNDROME TRISOMY 21 DOWN'S SYNDROME G Trisomy Complete trisomy 21 syndrome (disorder) SYNDROME DOWN'S Mongol T21 - Trisomy 21 trisomy 21 Mongolism Syndrome, Down's down s syndrome 21 trisomy
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| Tree Number |
T3.25.90.7 T9.8.3.9.19 T3.25.11.5.9.7 T9.8.3.1.57 T9.8.4.32.19 T9.21.1.5.9.7 T3.25.70.9.7
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| subClassOf |
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