Application Version: 4.0.6.10
Content Version: 2024.07.12
Release Notes [PDF288KB]
User Guide [PDF6.08MB]
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Value Set Information
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Version History
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- Value Set Concepts
- Value Set Details
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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 |
- Page last reviewed:June 20, 2024
- Page last updated:June 20, 2024
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