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Value Set Information
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Version History
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| Concept Code | Sequence | Concept Name | Preferred Concept Name | Code System | Value Set | ||
|---|---|---|---|---|---|---|---|
| 409709004 | 1 | Chromosomal disorder | Chromosomal disorder | SNOMED-CT | Suspected Chromosomal Disorder (NCHS) | Details | |
| 548004 | 2 | 13 p partial trisomy syndrome | 13 p partial trisomy syndrome | SNOMED-CT | Suspected Chromosomal Disorder (NCHS) | Details | |
| 4199009 | 3 | 18 p partial trisomy syndrome | 18 p partial trisomy syndrome | SNOMED-CT | Suspected Chromosomal Disorder (NCHS) | Details | |
| 205636003 | 4 | Whole chromosome monosomy - meiotic nondisjunction | Whole chromosome monosomy - meiotic nondisjunction | SNOMED-CT | Suspected Chromosomal Disorder (NCHS) | Details | |
| 10572007 | 5 | 13 q partial trisomy syndrome | 13 q partial trisomy syndrome | SNOMED-CT | Suspected Chromosomal Disorder (NCHS) | Details | |
| 19550003 | 6 | 22 q partial monosomy syndrome | 22 q partial monosomy syndrome | SNOMED-CT | Suspected Chromosomal Disorder (NCHS) | Details | |
| 21111006 | 7 | Complete trisomy 13 syndrome | Complete trisomy 13 syndrome | SNOMED-CT | Suspected Chromosomal Disorder (NCHS) | Details | |
| 38804009 | 8 | Turner syndrome | Turner syndrome | SNOMED-CT | Suspected Chromosomal Disorder (NCHS) | Details | |
| 41040004 | 9 | Complete trisomy 21 syndrome | Complete trisomy 21 syndrome | SNOMED-CT | Suspected Chromosomal Disorder (NCHS) | Details | |
| 42712003 | 10 | Cri du chat | Cri du chat | SNOMED-CT | Suspected Chromosomal Disorder (NCHS) | Details | |
| 51500006 | 11 | Complete trisomy 18 syndrome | Complete trisomy 18 syndrome | SNOMED-CT | Suspected Chromosomal Disorder (NCHS) | Details | |
| 62599000 | 12 | 9 p partial monosomy syndrome | 9 p partial monosomy syndrome | SNOMED-CT | Suspected Chromosomal Disorder (NCHS) | Details | |
| 66985009 | 13 | 18 q partial trisomy syndrome | 18 q partial trisomy syndrome | SNOMED-CT | Suspected Chromosomal Disorder (NCHS) | Details | |
| 70173007 | 14 | 5 p partial monosomy syndrome | 5 p partial monosomy syndrome | SNOMED-CT | Suspected Chromosomal Disorder (NCHS) | Details | |
| 77128003 | 15 | DiGeorge sequence | DiGeorge sequence | SNOMED-CT | Suspected Chromosomal Disorder (NCHS) | Details | |