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255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
554801000077113 congénital (valeur de l'attribut) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
congénital est un(e) (attribut) périodes de vie true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
crise d'anémie falciforme survenue (attribut) True congénital Inferred relationship Some 1
Sickling disorder due to hemoglobin S (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hemoglobin SS disease with crisis (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Sickle cell-hemoglobin C disease with crisis (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Sickle cell-hemoglobin C disease without crisis (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Sickle cell-hemoglobin D disease with crisis (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hereditary hemoglobinopathy (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hemoglobin SS disease with vasoocclusive crisis (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Acute sickle cell splenic sequestration crisis (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Hemoglobin O-Arab trait (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hemoglobin H constant spring thalassemia (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Alpha thalassemia X-linked intellectual disability syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Dominant beta-thalassemia (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Beta thalassemia X-linked thrombocytopenia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Pseudoprogeria syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Pseudoprogeria syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 6
Pseudoprogeria syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 7
Pseudoprogeria syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 8
Pseudoprogeria syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 9
Exostosis, anetoderma, brachydactyly type E syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 8
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 9
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 13
Joubert syndrome with Jeune asphyxiating thoracic dystrophy survenue (attribut) False congénital Inferred relationship Some 4
Joubert syndrome with Jeune asphyxiating thoracic dystrophy survenue (attribut) False congénital Inferred relationship Some 5
Joubert syndrome with Jeune asphyxiating thoracic dystrophy survenue (attribut) False congénital Inferred relationship Some 6
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome survenue (attribut) False congénital Inferred relationship Some 5
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome survenue (attribut) False congénital Inferred relationship Some 6
Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital disorder of glycosylation type 1s survenue (attribut) True congénital Inferred relationship Some 1
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome survenue (attribut) True congénital Inferred relationship Some 2
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome survenue (attribut) True congénital Inferred relationship Some 3
Long thumb brachydactyly syndrome survenue (attribut) True congénital Inferred relationship Some 4
Long thumb brachydactyly syndrome survenue (attribut) False congénital Inferred relationship Some 5
Long thumb brachydactyly syndrome survenue (attribut) False congénital Inferred relationship Some 6
Long thumb brachydactyly syndrome survenue (attribut) False congénital Inferred relationship Some 7
Sickle cell trait in mother complicating pregnancy survenue (attribut) True congénital Inferred relationship Some 1
Thalassemia in mother complicating pregnancy survenue (attribut) True congénital Inferred relationship Some 3
Sickle cell anaemia in mother complicating childbirth survenue (attribut) True congénital Inferred relationship Some 3
Sickle cell trait in mother complicating childbirth (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Thalassemia in mother complicating childbirth survenue (attribut) True congénital Inferred relationship Some 3
Congenital anomaly of lacrimal system survenue (attribut) False congénital Inferred relationship Some
Congenital lobulation of kidney survenue (attribut) False congénital Inferred relationship Some
Ring chromosome 22 syndrome survenue (attribut) False congénital Inferred relationship Some
Congenital duplication of stomach survenue (attribut) False congénital Inferred relationship Some
Congenital cleft hand survenue (attribut) False congénital Inferred relationship Some 4
Congenital absence of lobe of liver survenue (attribut) False congénital Inferred relationship Some
hypercholestérolémie survenue (attribut) False congénital Inferred relationship Some
Brachycephaly survenue (attribut) False congénital Inferred relationship Some
Congenital stricture of urethra survenue (attribut) False congénital Inferred relationship Some
Anomaly of chromosome pair 3 survenue (attribut) False congénital Inferred relationship Some
Congenital anomaly of aortic valve survenue (attribut) False congénital Inferred relationship Some
Uterus unicornis survenue (attribut) False congénital Inferred relationship Some
Congenital anomaly of urethra survenue (attribut) False congénital Inferred relationship Some
Buphthalmos survenue (attribut) False congénital Inferred relationship Some
Preductal coarctation of aorta survenue (attribut) False congénital Inferred relationship Some
Lenz-Majewski hyperostosis syndrome survenue (attribut) False congénital Inferred relationship Some
Derencephalus survenue (attribut) False congénital Inferred relationship Some
12p partial trisomy syndrome survenue (attribut) False congénital Inferred relationship Some
Propionyl-CoA carboxylase deficiency survenue (attribut) False congénital Inferred relationship Some
Multiple carboxylase deficiency - neonatal onset survenue (attribut) False congénital Inferred relationship Some
Holocarboxylase synthase deficiency survenue (attribut) False congénital Inferred relationship Some
Homocystinuria vitamin B12-responsive type III survenue (attribut) False congénital Inferred relationship Some
Functional defects of methionine synthase survenue (attribut) False congénital Inferred relationship Some
Homogentisate 1,2-dioxygenase deficiency survenue (attribut) False congénital Inferred relationship Some
Double renal pelvis survenue (attribut) False congénital Inferred relationship Some
Hypoplastic chondrodystrophy survenue (attribut) False congénital Inferred relationship Some
Pigmented xerodermoid survenue (attribut) False congénital Inferred relationship Some
Lipofuscinosis survenue (attribut) True congénital Inferred relationship Some 1
Hepatic tyrosine aminotransferase deficiency survenue (attribut) False congénital Inferred relationship Some
Glutaryl-coenzyme A dehydrogenase deficiency (disorder) survenue (attribut) False congénital Inferred relationship Some
Doubling of uterus with doubling of cervix and vagina survenue (attribut) False congénital Inferred relationship Some
Dysplastic ovary survenue (attribut) False congénital Inferred relationship Some
Congenital ovarian dysplasia survenue (attribut) False congénital Inferred relationship Some
Congenital epiblepharon-inferior oblique syndrome survenue (attribut) False congénital Inferred relationship Some
Swan's syndrome II survenue (attribut) False congénital Inferred relationship Some
Brachycephalic dwarfism survenue (attribut) False congénital Inferred relationship Some
Embedded tooth survenue (attribut) False congénital Inferred relationship Some
Aganglionosis of Auerbach's plexus survenue (attribut) False congénital Inferred relationship Some
Congenital prolapse of bladder survenue (attribut) False congénital Inferred relationship Some
Congenital megacolon survenue (attribut) False congénital Inferred relationship Some
Aganglionosis of colon survenue (attribut) False congénital Inferred relationship Some
Mesonephric cyst survenue (attribut) False congénital Inferred relationship Some
Wolffian cyst survenue (attribut) False congénital Inferred relationship Some
Common atrioventricular canal survenue (attribut) False congénital Inferred relationship Some
Congenital stenosis of small intestine survenue (attribut) False congénital Inferred relationship Some
Congenital atresia of jejunum survenue (attribut) False congénital Inferred relationship Some
Malrotation of the intestine type IIID survenue (attribut) False congénital Inferred relationship Some
Familial megaloblastic anemia survenue (attribut) True congénital Inferred relationship Some 3
syndrome de Dandy-Walker survenue (attribut) False congénital Inferred relationship Some
Henck-Assman disease survenue (attribut) False congénital Inferred relationship Some
Osteopetrosis (disorder) survenue (attribut) False congénital Inferred relationship Some
Chondrodysplasia punctata congenita survenue (attribut) False congénital Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Choroideremia with deafness and obesity syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 5
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 6
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 7
Polydactyly myopia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Polydactyly myopia syndrome (disorder) survenue (attribut) False congénital Inferred relationship Some 3

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