loading...| Preferred Name |
Ehlers-Danlos Syndrome |
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| Synonyms |
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|
| Definitions |
A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. |
|
| ID |
http://www.phoc.org.cn/pmo/class/PMO_00037375 |
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| Database_Cross_Reference |
MTH:NOCODE NDFRT:N0000001059 ICD10AM:Q79.6 CCPSS:0058060 LCH:U001514 RCD:X50Cz LCH_NW:sh85041368 MDR:10014316 CHV:0000041879 COSTAR:NOCODE DO:DOID:13359 SNOMEDCT_US:157008000 RCD:PGy2. SNOMEDCT_US:398114001 SNMI:D6-90100 DXP:U000511 SNM:D-3820 MDR:10011691 ICD10CM:Q79.6 ICD10:Q79.6 MEDCIN:31793 SNOMEDCT_US:2300005 ICPC2P:L82013 ICD9CM:756.83 CSP:1849-3115 NCI:C34568 MEDLINEPLUS:1594 DXP:NOCODE NCI_NICHD:C34568 SNOMEDCT_US:268352002 CHV:0000004303 SNOMEDCT_US:238848002 MSH:D004535 |
|
| Definition |
A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. |
|
| label |
Ehlers-Danlos Syndrome |
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| MCID |
MC00004325 |
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| PMOID |
PMO:00037375 |
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| prefixIRI |
pmo:PMO_00037375 |
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| prefLabel |
Ehlers-Danlos Syndrome |
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| Synonym |
Danlos disease cutis hyperelastica Cutis Elastica eds ehlers danlos syndrome Ehlers-Danlos syndrome (diagnosis) Cutis hyperplastica ehler danlos syndrome skin elastic Ehlers-danlos syndrome ehlers danlos syndrome EHLERS-DANLOS SYNDROME Cutis hyperelastica (disorder) Ehlers-Danlos syndrome, NOS danlos disease Ehlers Danlos Syndrome Ehlers Danlos syndrome India rubber skin CUTIS HYPERELASTICA Ehlers Danlos Disease Hereditary collagen dysplasia EDS Cutis elastica Disease, Ehlers-Danlos Ehlers-Danlos Disease Ehlers-Danlos syndrome Fibrodysplasia elastica generalisata ehlers danlos syndromes elastic skin Ehlers-Danlos syndrome (disorder) EHLERS DANLOS SYNDROME Meekeren-Ehlers-Danlos syndrome Cutis hyperelastica Disease, Ehlers Danlos EDS - Ehlers-Danlos syndrome ehlers-danlos syndrome cutis elastica EHLERS DANLOS DIS danlos ehlers syndrome Ehlers-Danlos Syndrome [Disease/Finding] Danlos Disease, Ehlers Cutis hyperelastica dermatorrhexis Dystrophia mesodermalis congenita Syndrome, Ehlers-Danlos |
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| Tree Number |
T9.8.4.1.18 T9.20.2.36.1 T9.14.1.1.18 T9.14.2.1.1 T9.5.2.12.16.1 T9.14.1.5.1 T9.8.3.4.1 |
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00036738 http://www.phoc.org.cn/pmo/class/PMO_00039227 http://www.phoc.org.cn/pmo/class/PMO_00039327 |