Mobile Antepartum Summary
1.0.0-comment - ballot
This page is part of the Mobile Antepartum Summary (v1.0.0-comment: Publication Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions
Official URL: https://profiles.ihe.net/PCC/mAPS/ValueSet/Antepartum.Family.History.and.Genetic.Screening.VS | Version: 1.0.0-comment | |||
Active as of 2024-06-04 | Computable Name: Antepartum_Family_History_and_Genetic_Screening_VS |
This value set includes the type of genetic-related risks identified through screening of the patient’s and biological father’s family history.
References
http://snomed.info/sct
Code | Display |
408856003 | Autism |
414022008 | Blood Disorders |
80544005 | Canavan Disease |
409709004 | Chromosomal Disorder Includes any inherited genetic or chromosomal disorders |
13213009 | Congenital Heart Defect |
190905008 | Cystic Fibrosis |
276720006 | Dysmorphism (Birth Defect) Patient or baby's father has a child with birth defects |
41040004 | Down Syndrome |
29159009 | Familial Dysautonomia |
90935002 | Hemophilia |
58756001 | Huntington's Chorea |
75934005 | Maternal Metabolic Disorder |
91138005 | Mental Retardation |
73297009 | Muscular Dystrophy |
253098009 | Neural Tube Defect |
102878001 | Recurrent pregnancy loss/stillbirth |
417357006 | Sickle Cell Disease |
16402000 | Sickle Cell Trait |
111385000 | Tay-Sachs |
40108008 | Thalassemia |
Expansion based on SNOMED CT International edition 01-Feb 2024
This value set contains 20 concepts
Code | System | Display | Inactive |
408856003 | http://snomed.info/sct | Autistic disorder (disorder) | inactive |
414022008 | http://snomed.info/sct | Disorder of cellular component of blood (disorder) | |
80544005 | http://snomed.info/sct | Spongy degeneration of central nervous system | |
409709004 | http://snomed.info/sct | Chromosomal disorder (disorder) | |
13213009 | http://snomed.info/sct | Congenital heart disease | |
190905008 | http://snomed.info/sct | Cystic fibrosis | |
276720006 | http://snomed.info/sct | Dysmorphism | |
41040004 | http://snomed.info/sct | Complete trisomy 21 syndrome | |
29159009 | http://snomed.info/sct | Familial dysautonomia | |
90935002 | http://snomed.info/sct | Hemophilia | |
58756001 | http://snomed.info/sct | Huntington's chorea | |
75934005 | http://snomed.info/sct | Metabolic disease | |
91138005 | http://snomed.info/sct | Mental retardation | inactive |
73297009 | http://snomed.info/sct | Muscular dystrophy | |
253098009 | http://snomed.info/sct | Neural tube defect | |
102878001 | http://snomed.info/sct | Recurrent abortion | |
417357006 | http://snomed.info/sct | Sickling disorder due to hemoglobin S (disorder) | |
16402000 | http://snomed.info/sct | Sickle cell trait | |
111385000 | http://snomed.info/sct | Tay-Sachs disease | |
40108008 | http://snomed.info/sct | Thalassemia |
Explanation of the columns that may appear on this page:
Level | A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies |
System | The source of the definition of the code (when the value set draws in codes defined elsewhere) |
Code | The code (used as the code in the resource instance) |
Display | The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application |
Definition | An explanation of the meaning of the concept |
Comments | Additional notes about how to use the code |