Preferred Label : Newborn Screening;
NCIt synonyms : Newborn Assessment;
Alternative definition : NICHD: A specific type of newborn examination performed to allow for early detection
of disease(s) and/or disorder(s).;
Origin ID : C81178;
UMLS CUI : C0027617;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
concept_is_in_subset
https://www.inesss.qc.ca/publications/repertoire-des-publications/publication/pertinence-de-lajout-du-depistage-neonatal-de-lhyperplasie-congenitale-des-surrenales-au-programme-quebecois-de-depistage-neonatal-sanguin.html
2024
Canada
review of literature
public health guidelines
Add
Attention Deficit Hyperactivity Disorder, Inattentive Type
Schedule
congenital adrenal cortical hyperplasia, nos
adrenal hyperplasia, congenital
Program
neonatal screening, nos
Newborn Screening
neonatal screening
Congenital Adrenal Hyperplasia
Blood Screening
Scheduled
---
https://www.has-sante.fr/jcms/p_3426280/fr/depistage-neonatal-reevaluation-de-l-opportunite-d-integrer-cinq-erreurs-innees-du-metabolisme-au-programme-de-dnn
2024
France
public health guidelines
Newborn Screening
Schedule
metabolic disease, nos
Integrator Device
Integrated
neonatal screening, nos
metabolism, inborn errors
neonatal screening
Severity One Out of Five
Congenital Metabolic Disorder
Scheduled
Metabolic Programming
---
https://www.inesss.qc.ca/publications/repertoire-des-publications/publication/pertinence-de-lajout-du-depistage-universel-de-linfection-congenitale-au-cytomegalovirus-cmv-au-programme-quebecois-de-depistage-neonatal.html
2024
Canada
public health guidelines
Congenital Cytomegaloviral Infection
Schedule
cytomegalovirus infections
Newborn Screening
neonatal screening, nos
Program
cytomegalovirus
neonatal screening
congenital cytomegalovirus infection
Attention Deficit Hyperactivity Disorder, Inattentive Type
Universal
Add
Congenital Cytomegalovirus Infection
Scheduled
Cytomegalovirus
---
https://publications.msss.gouv.qc.ca/msss/document-003633/
2023
Canada
handbooks
Spinal Muscular Atrophy
resulting in
spinal muscular atrophy, nos
muscular atrophy, spinal
neonatal screening
patient care management
Growth Inhibition Screening Result
Newborn Screening
Positive Charge
neonatal screening, nos
---
https://publications.msss.gouv.qc.ca/msss/document-003632/
2023
Canada
handbooks
immunologic deficiency syndromes
SCID Mouse
Positive Charge
Newborn Screening
neonatal screening, nos
Growth Inhibition Screening Result
severe combined immunodeficiency
severe combined immunodeficiency disease, nos
CPTAC Case Identifier
neonatal screening
patient care management
resulting in
Severe Combined Immunodeficiency
---
https://publications.msss.gouv.qc.ca/msss/document-000293/
2023
Canada
technical report
Schedule
Newborn Screening
Urinary
October
Blood Screening
urinary tract, nos
Program
Genetic Reference Sequence
Reference
neonatal screening
Binary
neonatal screening, nos
Scheduled
Murine Urinary System
---
https://publications.msss.gouv.qc.ca/msss/document-000269/
2023
Canada
guideline
Handbook
neonatal screening, nos
Certified Nurse Midwife
Urinary
perinatology
November
neonatal screening
urinary tract, nos
Murine Urinary System
nurse midwives
Guide Device
Blood Screening
Splayed
Binary
Destination
emigration and immigration
Newborn Screening
---