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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 |