Defect, nosSNOMED Notion

https://www.chu-lyon.fr/piloter-etp-anomalie-developpement-avec-ou-sans-deficience-intellectuelle
2025
France
popular works
congenital abnormalities
therapeutics
developmental disabilities
persons
impairment
defect, nos
Pilots
intellectual disability
education
patient education as topic

---
https://www.ce-mir.fr/files/medias/documents/36.%20%C3%89tiologie%20des%20anomalies%20gazom%C3%A9triques%20d%27origine%20m%C3%A9tabolique.pdf
2024
France
educational course
Abnormality
Molecular Genetic Variation
blood gas analysis
Metabolic Process
Abnormal Indicator
Metabolic
defect, nos
CDISC Define-XML Origin Source Terminology
metabolism
general metabolic function, nos

---
https://www.cochrane.org/fr/CD014715/PREG_precision-de-lechographie-du-premier-et-du-deuxieme-trimestre-pour-lidentification-des-anomalies
2024
United Kingdom
review of literature
french abstract
Intervention Not Given for Kawasaki Disease
KIT Mutation Analysis Was Not Performed
Lymph Node Dissection Was Not Performed
Unemployed
Nitric Oxide Measurement
American College of Cardiology/American Heart Association Lesion Complexity Score A
NF1 Mutation Analysis Was Not Performed
Use of Smokeless Tobacco at Time of Diagnosis Negative
History of Medical Treatment Absent
Has No Sibling
Additional Surgery for New Tumor Event Absent
Tumor Reoccurrence Absent After Initial Treatment
First Trimester
Adjuvant Post-operative Immunological Therapy Was Not Administered
Accuracy
IDH Family Wildtype
asthenia
First Degree Family History Cancer Negative
Regional Anesthesia was not Administered
Choose
Drug Accumulation 1.2 to 1.99
International Prognostic Index Low Risk Group
Medication Not Taken
Interferon Gamma Treatment was not Administered Prior to Specimen Resection
No History of Gestational Complication
Tumor Progression Absent After Initial Treatment
No History of Congenital Heart Disease
Pregnancy
Ultrasound Mode
Interferon Gamma Treatment was not Administered 90 Days Prior to Specimen Resection
Additional Molecular Studies Were Not Performed
Radiation Was Not Administered as an Additional Treatment for a New Tumor Event
NON Mouse
IV Anesthesia was not Administered
No History of Other Muscular Dystrophy or Glycogen Storage Disorder
RET Rearrangement Analysis Was Not Performed
pregnancy trimester, first
Not Lost to Follow-Up
Patient was not Postmenopausal with no Prior Oophorectomy
Ultrasound
De-Identification
Chief Complaint was Not Witnessed
ERBB2 Mutation Analysis Was Not Performed
Peripheral Blood Immunophenotyping and Cytochemistry Were Not Performed
New Tumor Event After Initial Treatment Absent
No History of Kawasaki Disease
Routine Cytogenetics Were not Completed
EGFR Gene Amplification Negative
fetus, nos
Subsequent Known Primary Melanoma(s) Not Found During the Follow-Up
Adjuvant Post-operative Radiation Therapy Was Not Administered
Adjuvant Post-operative Pharmaceutical Therapy Was Not Administered
ultrasonography, nos
ALK Rearrangement Analysis Was Not Performed
Bone Marrow Aspirate Immunophenotyping and Cytochemistry Were Not Performed
pregnancy
Adjuvant Post-operative Targeted Molecular Therapy Was Not Administered
Minor Criteria for Rheumatic Heart Disease Not Present
defect, nos
Chemical/Occupational Exposure Absent
PTEN Gene Mutation Negative
Neither Case or Control Status
IDH Family Mutation Analysis Was Not Performed
No History of Myopathy
Cancer History Absent
No Response to Intervention for Kawasaki Disease
Low Risk
Evidence of Disease Absent after Completion of Therapy
Documentation Absent
fetal ultrasonography
Caffeine Not Routinely Consumed
Family History of Stomach Cancer Absent
pregnancy, high-risk
Therapeutic Ionizing Radiation to Head History Absent
MET Mutation Analysis Was Not Performed
Abnormality
EGFR Amplification Analysis Was Not Performed
ATRX Mutation Analysis Was Not Performed
Chemotherapy Was Not Administered as an Additional Treatment for a New Tumor Event
Norway
pregnancy, nos
Chemotherapy Not Received
Other Preoperative IV Medications were not Administered
Analytical Procedure Precision
Regardless
First Degree Family History Thyroid Cancer Negative
No Known History of Illicit Drug Use
Patient was Not Previously Evaluated for Current Chief Complaint
Exposure as Collected Occurrence
SDH Complex Mutation Analysis Was Not Performed
Negation
No History of Neonatal Complication
Molecular Genetic Variation
Immunotherapy Was Not Administered as an Additional Treatment for a New Tumor Event
Preoperative IV Antiemetics were not Administered
Ultrasonogram
Fluorescence In Situ Hybridization Was Not Performed
Abnormal Indicator
ATRX Gene Mutation Negative
New Disease is not Multifocal
Selenium and Vitamin E Efficacy Trial
First Degree Family History of Primary Brain Tumor Negative
Fetus
Petal
Neither
Ultrasound Imaging
Adjuvant I-131 Therapy Negative
PDGFRA Mutation Analysis Was Not Performed
Preoperative IV Antacids were not Administered
Radiation History Negative
Targeted Molecular Therapy Was Not Administered as an Additional Treatment for a New Tumor Event
ultrasonography, prenatal
Intercurrent Illness is Absent at Onset of Chief Complaint
Multiple Known Primary Tumors Absent at Initial Melanoma Diagnosis
Unspecified
History of Colorectal Cancer Negative
Any Metastatic Diagnosis Absent
1p/19q Deletion Analysis Was Not Performed
Chief Complaint Not Caused by Trauma
Another Form of Birth Control was not Used
No Known History of Alcohol Use
Hypertension Absent
Radiation Therapy Not Received
IPSS-R Risk Category Low
Local Anesthesia Agents were not Administered
Preoperative IV Sedation was Not Administered
EGFR Mutation Analysis Was Not Performed
PTEN Mutation Analysis Was Not Performed
Paraneoplastic Syndrome is Not Present
Preoperative IV Opiates were not Administered
TP53 Mutation Analysis Was Not Performed
Nitric Oxide
Additional Surgery for New Loco-Regional Tumor Event Was Not Performed
MGMT Promoter Methylation Testing Was Not Performed
Hormone Therapy Was Not Administered as an Additional Treatment for a New Tumor Event
BRAF Rearrangement Analysis Was Not Performed
ROS1 Rearrangement Analysis Was Not Performed
Additional Immunohistochemistry Was Not Performed
Disease Risk Index Low Risk
NRAS Mutation Analysis Was Not Performed
No History of Rheumatic Fever
No History of Non-Cardiac Surgery
KRAS Mutation Analysis Was Not Performed
Adjuvant Post-operative Chemotherapy Was Not Administered
Regular Smokeless Tobacco Use for Six Weeks or More Negative
risk
Analytical Procedure Accuracy
Physician Diagnosed Diabetes Absent
10q23/PTEN Locus Deletion Analysis Was Not Performed
BRAF Mutation Analysis Was Not Performed
Additional Surgery for New Metastatic Tumor Event Was Not Performed

---
https://www.ce-mir.fr/files/medias/documents/37.%20D%C3%A9sordres%20hydro%C3%A9lectrolytiques%2C%20anomalies%20du%20bilan%20de%20l%27eau.pdf
2024
France
educational course
Drinking Water
uterine artery embolization
With Water
Abnormality
water-electrolyte imbalance
With Plenty of Water
Molecular Genetic Variation
Balance Sheet
Abnormal Indicator
water
defect, nos
Checkup
water

---
https://n2t.net/ark:/47881/m6bk1c5v
2022
France
dissertations, academic
disclosure
face
ultrasonography, prenatal
ultrasonography, nos
fetal ultrasonography
fetus, nos
defect, nos

---
https://cps.ca/fr/documents/position/les-anomalies-vasculaires-pendant-lenfance
2022
Canada
practice guideline
specialization
patients
has patient
childhood
vascular malformations
blood vessel, nos
resources
defect, nos
health resources

---
https://sides.uness.fr/corpus/Ophtalmologie:R%C3%A9fraction_et_anomalies_de_la_r%C3%A9fraction
2021
France
educational course
Ophthalmology
ophthalmologist
defect, nos
ophthalmology
Ophthalmology

---
https://sides.uness.fr/corpus/Neurologie:Anomalie_de_la_vision_d%E2%80%99apparition_brutale
2021
France
educational course
vision, nos
Vision
vision, ocular
nervous system malformations
Neurology
Vision
neurology
defect, nos
vision disorders

---
https://www.has-sante.fr/jcms/p_3293692/fr/anomalies-du-developpement-liees-aux-variants-de-cdh1
2021
France
practice guideline
Cdh1 proteins
chronic disease
chronic disease, nos
Diseases
congenital abnormalities
defect, nos
Handbook
Chronic disease

---
https://sides.uness.fr/corpus/Ophtalmologie:Anomalie_de_la_vision_d%27apparition_brutale
2021
France
educational course
Vision
ophthalmology
ophthalmologist
Ophthalmology
vision, ocular
Vision
vision disorders
defect, nos
vision, nos
Ophthalmology

---
https://www.cochrane.org/fr/CD013018/CF_therapies-physiques-pour-les-anomalies-posturales-chez-les-personnes-atteintes-de-mucoviscidose
2020
France
United Kingdom
review of literature
french abstract
persons
therapy, nos
Cystic fibrosis
cystic fibrosis
Physics
cystic fibrosis
physics
defect, nos
physics

---
https://www.medg.fr/anomalie-de-la-torsion-des-membres-inferieurs
2020
France
teaching material
scientific and technical information
all extremities
lower extremity
torsion abnormality
torsion
defect, nos

---
https://dumas.ccsd.cnrs.fr/dumas-03211412
2020
France
dissertations, academic
snacks
Embryology
embryology
Literature
associated with
defect, nos
face, nos
pituitary gland, nos
review literature as topic
duplication

---
https://dumas.ccsd.cnrs.fr/dumas-03048215
2020
France
dissertations, academic
defect, nos
fetal attitude
fetus
disclosure
attitude
face

---
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=FR&Expert=371183
2020
France
scientific and technical information
Malformations
Malformations
developmental anomaly, nos
heart defects, congenital
Malformations
glycosylation
Malformations
defect, nos
congenital disorders of glycosylation
Malformation
heart, nos
congenital abnormalities
glycosylation
congenital abnormalities

---
https://www.medg.fr/anomalies-de-la-vision-dapparition-brutale
2019
France
teaching material
scientific and technical information
vision disorders
vision, nos
Vision
defect, nos
Vision
vision, ocular

---
https://www.sfcardio.fr/publication/tachycardie-ou-une-anomalie-electrique-par-ablation-endocavitaire
2019
France
patient education handout
excision, nos
has patient
catheter ablation
Tachycardia
patients
tachycardia
defect, nos
tachycardia, nos

---
https://www.medg.fr/anomalies-de-la-refraction
2019
France
teaching material
scientific and technical information
defect, nos

---
https://dumas.ccsd.cnrs.fr/dumas-01861662
2018
false
false
false
France
French
dissertations, academic
defect, nos
Neural tube defect
neural tube
women
folic acid
female
folic acid
folic acid
neural tube defects
women
female

---
http://www.sudoc.fr/226842452
2018
false
false
false
France
French
dissertations, academic
interview
fetus, nos
generalized
parent, nos
qualitative
general practitioners
defect, nos
fetus
pregnancy, nos
general practice
parents
physician's role
Splenic abscess
pregnancy
Pregnant People
interviews as topic
Physicians
detective

---
http://www.avisdexperts.ch/videos/view/6753
2017
false
false
false
Switzerland
French
radio broadcast
video recording
perception, nos
defect, nos
color vision defects
with color
color perception
deutan defect

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=FR&Expert=254830
2017
false
false
false
France
French
scientific and technical information
mitochondria
defect, nos

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=FR&Expert=79189
2017
false
false
false
France
French
scientific and technical information
microbodies
Organelle Biogenesis
peroxisome biogenesis disorders
defect, nos
peroxisomal disorders

---
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=FR&Expert=369929
false
false
false
France
French
scientific and technical information
defect, nos
Epilepsy
neurology
epilepsy
adenoma
aldosterone
neurologic
aldosterone
nervous system malformations
epilepsy, nos

---
https://dumas.ccsd.cnrs.fr/dumas-01830954
2016
false
true
false
France
French
dissertations, academic
occupational
proposita
child, nos
testis, nos
Child
recommendations, health planning
Child
child
defect, nos
directive counseling
Child
Child
professional practice
positive
patient care management
Practice
health planning guidelines
evaluation studies as topic

---
https://ecm.univ-rennes1.fr/nuxeo/site/esupversions/61300e75-6d9c-4fc8-843f-bca5717b55d0/module4/site/html/index.html
false
false
false
false
France
teaching material
tooth abnormalities
tooth, nos
defect, nos

---
http://www.reseau-naissance.fr/data/mediashare/2u/gx57qlxwt5zaotgrrpyg445w6fop94-org.pdf
2015
false
false
false
France
French
scientific and technical information
parturition
genital system, nos
organizations
defect, nos
organ part
congenital abnormalities
genitalia
patient care management
birth, nos
organizations

---
http://www.sudoc.fr/193416158
2015
false
false
false
France
French
dissertations, academic
military personnel
prospective studies
electrocardiogram
proband
aptitude
defect, nos
test taking skills

---
http://mediad4.u-strasbg.fr/accueil.php
2013
false
false
false
false
France
French
libraries, medical
tunica media, nos
defect, nos
tunica media
tooth abnormalities
tooth, nos

---
https://anpgm.fr/media/documents/ANPGM_102_Glucides_et_Glycognoses.doc
2012
France
guideline
glycogen storage disease
Metabolism
defect, nos
glycogen storage disease, nos
Glycogenosis
Carbohydrates
carbohydrate, nos
Carbohydrates
carbohydrate metabolism
general metabolic function, nos

---
http://archives.uness.fr/sites/umvf/media/ressWikinu/p2d1/dupuis_clementine_2a_p01/index.htm
2011
false
true
false
true
France
French
educational course
reproduction
sex differentiation
gene, nos
genetics
defect, nos
disorders of sex development
sex differentiation

---
https://anpgm.fr/media/documents/ANPGM_112_Porphyries_et_metabolisme_de_lheme.doc
2011
France
guideline
metabolism
Metabolism
porphyria, nos
general metabolic function, nos
porphyrias
defect, nos
heme
Porphyria
heme

---
https://rmlg.uliege.be/article/1986
2010
Belgium
teaching material
journal article
student, nos
students
thinking, nos
defect, nos
diagnosis

---
https://www.sfo-online.fr/sites/www.sfo-online.fr/files/medias/documents/29_Chirurgie_des_anomalies_des_paupieres_liees_a_l_age.pdf
2009
false
false
false
France
French
patient education handout
eyelids
age, nos
operative procedure, nos
general surgery
defect, nos

---