FHIR IG analytics| Package | us.cdc.phinvads |
| Resource Type | ValueSet |
| Id | ValueSet-1.3.6.1.4.1.19376.1.7.3.1.1.13.8.57.json |
| FHIR Version | R4 |
| URL | http://phinvads.cdc.gov/fhir/ValueSet/1.3.6.1.4.1.19376.1.7.3.1.1.13.8.57 |
| Version | 2 |
| Status | active |
| Date | 2014-01-29T00:10:00+11:00 |
| Name | PHVS_SuspectedChromosomalDisorder_NCHS |
| Title | Suspected Chromosomal Disorder (NCHS) |
| Realm | us |
| Description | To Reflect Suspected Chromosomal Disorder as an anomality of the newborn |
No resources found
| CodeSystem | |
| sct | SNOMED codes used in this IG |
No narrative content found in resource
FHIR
FHIRsmith{
"resourceType": "ValueSet",
"id": "1.3.6.1.4.1.19376.1.7.3.1.1.13.8.57",
"meta": {
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"url": "http://phinvads.cdc.gov/fhir/ValueSet/1.3.6.1.4.1.19376.1.7.3.1.1.13.8.57",
"version": "2",
"name": "PHVS_SuspectedChromosomalDisorder_NCHS",
"title": "Suspected Chromosomal Disorder (NCHS)",
"status": "active",
"date": "2014-01-29T00:10:00+11:00",
"description": "To Reflect Suspected Chromosomal Disorder as an anomality of the newborn",
"compose": {
"include": [
{
"system": "http://snomed.info/sct",
"version": "http://snomed.info/sct/731000124108/version/20200901",
"concept": [
{
"code": "409709004",
"display": "Chromosomal disorder"
},
{
"code": "548004",
"display": "13 p partial trisomy syndrome"
},
{
"code": "4199009",
"display": "18 p partial trisomy syndrome"
},
{
"code": "205636003",
"display": "Whole chromosome monosomy - meiotic nondisjunction"
},
{
"code": "10572007",
"display": "13 q partial trisomy syndrome"
},
{
"code": "19550003",
"display": "22 q partial monosomy syndrome"
},
{
"code": "21111006",
"display": "Complete trisomy 13 syndrome"
},
{
"code": "38804009",
"display": "Turner syndrome"
},
{
"code": "41040004",
"display": "Complete trisomy 21 syndrome"
},
{
"code": "42712003",
"display": "Cri du chat"
},
{
"code": "51500006",
"display": "Complete trisomy 18 syndrome"
},
{
"code": "62599000",
"display": "9 p partial monosomy syndrome"
},
{
"code": "66985009",
"display": "18 q partial trisomy syndrome"
},
{
"code": "70173007",
"display": "5 p partial monosomy syndrome"
},
{
"code": "77128003",
"display": "DiGeorge sequence"
},
{
"code": "78740005",
"display": "Complete monosomy 21 syndrome"
},
{
"code": "83092002",
"display": "Shprintzen syndrome"
},
{
"code": "83579008",
"display": "Mixed gonadal dysgenesis"
},
{
"code": "205615000",
"display": "Trisomy 21- meiotic nondisjunction"
},
{
"code": "205616004",
"display": "Trisomy 21- mitotic nondisjunction mosaicism"
},
{
"code": "205619006",
"display": "Trisomy 13 - meiotic nondisjunction"
},
{
"code": "205620000",
"display": "Trisomy 13 - mitotic nondisjunction mosaicism"
},
{
"code": "205623003",
"display": "Trisomy 18 - meiotic nondisjunction"
},
{
"code": "205624009",
"display": "Trisomy 18 - mitotic nondisjunction mosaicism"
},
{
"code": "205634000",
"display": "Deletion seen only at prometaphase"
},
{
"code": "205638002",
"display": "Monosomy 21- mosaicism"
},
{
"code": "205644003",
"display": "Balanced autosomal translocation"
},
{
"code": "205673000",
"display": "Balanced autosomal rearrangement in abnormal individual"
},
{
"code": "205674006",
"display": "Balanced sex/autosomal rearrangement in abnormal individual"
},
{
"code": "205675007",
"display": "Individual with marker heterochromatin"
},
{
"code": "205676008",
"display": "Individual with autosomal fragile site"
},
{
"code": "205684007",
"display": "Turner's phenotype- karyotype normal"
},
{
"code": "205686009",
"display": "Karyotype 46- X iso (Xq)"
},
{
"code": "205687000",
"display": "Karyotype 46- X with abnormal sex chromosome except iso (Xq)"
},
{
"code": "205688005",
"display": "Turner's phenotype- mosaicism 45- X; 46- XX or 45- X; 46- XY"
},
{
"code": "205689002",
"display": "Mosaicism 45- X / other cell line with abnormal sex chromosome"
},
{
"code": "205699007",
"display": "Klinefelter's syndrome- XXYY"
},
{
"code": "205700008",
"display": "Klinefelter's syndrome- XY/XXY mosaic"
},
{
"code": "205719003",
"display": "46 XX true hermaphrodite"
},
{
"code": "254259001",
"display": "Absence of sex chromosome"
},
{
"code": "254262003",
"display": "Unbalanced translocation and insertion"
},
{
"code": "254264002",
"display": "Partial trisomy 21 in Down's syndrome"
},
{
"code": "254266000",
"display": "Partial trisomy 18 in Edward's syndrome"
},
{
"code": "254268004",
"display": "Partial trisomy 13 in Patau's syndrome"
},
{
"code": "254273005",
"display": "Autosomal deletion - mosaicism"
},
{
"code": "254275003",
"display": "Balanced rearrangement and structural marker"
},
{
"code": "254276002",
"display": "Balanced translocation and insertion in normal individual"
},
{
"code": "254280007",
"display": "Turner's phenotype- partial X deletion karyotype"
},
{
"code": "254281006",
"display": "Turner's phenotype - ring chromosome karyotype"
},
{
"code": "268300003",
"display": "Klinefelter's syndrome - male with more than two X chromosomes"
},
{
"code": "270520003",
"display": "Whole chromosome monosomy - mitotic nondisjunction mosaicism"
},
{
"code": "274908005",
"display": "Deletion with complex rearrangement"
},
{
"code": "275263003",
"display": "Klinefelter's syndrome XXXY"
},
{
"code": "275264009",
"display": "Klinefelter's syndrome XXXXY"
},
{
"code": "302960008",
"display": "Mosaicism 45- X; 46- XX"
},
{
"code": "371045000",
"display": "Translocation Down syndrome"
},
{
"code": "403759001",
"display": "Autosomal chromosomal disorder"
},
{
"code": "405769009",
"display": "Klinefelter's syndrome- XXY"
},
{
"code": "428113000",
"display": "Autosomal aneuploidy"
},
{
"code": "444655009",
"display": "Extra unidentified structurally abnormal chromosome"
},
{
"code": "444858009",
"display": "Unbalanced translocation of chromosome"
},
{
"code": "445580008",
"display": "Familial extra unidentified structurally abnormal chromosome"
},
{
"code": "312654000",
"display": "Maternal care for suspected chromosomal abnormality in fetus (disorder)"
}
]
}
]
}
}