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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
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Distal Xq28 microduplication syndrome survenue (attribut) True congénital Inferred relationship Some 2
Microduplication Xp11.22p11.23 syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Cholestanol storage disease survenue (attribut) True congénital Inferred relationship Some 1
défaut de synthèse des acides biliaires survenue (attribut) True congénital Inferred relationship Some 1
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency survenue (attribut) True congénital Inferred relationship Some 2
Delta-4-3-oxosteroid-5-beta-reductase deficiency survenue (attribut) True congénital Inferred relationship Some 2
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency survenue (attribut) True congénital Inferred relationship Some 3
Congenital bile acid synthesis defect type 3 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Familial hypercholanemia (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Bile acid coenzyme A ligase deficiency and defective amidation (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Cardiac glycogenosis survenue (attribut) True congénital Inferred relationship Some 1
Proteus like syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Hydrocephalus, tall stature, joint laxity syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 5
syndrome de duplication Xq12-q13.3 survenue (attribut) True congénital Inferred relationship Some 2
Tetrasomy 18p survenue (attribut) True congénital Inferred relationship Some 2
Tetrasomy of short arm of chromosome 9 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Right accessory carpal bone of wrist survenue (attribut) True congénital Inferred relationship Some 1
Accessory carpal bone of bilateral wrists (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Accessory carpal bone of bilateral wrists (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Left accessory carpal bone of wrist survenue (attribut) True congénital Inferred relationship Some 1
Adrenocorticotropic hormone resistance syndrome survenue (attribut) True congénital Inferred relationship Some 1
Glucocorticoid deficiency with achalasia survenue (attribut) True congénital Inferred relationship Some 4
Familial glucocorticoid deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Left metatarsus primus varus survenue (attribut) True congénital Inferred relationship Some 1
Right metatarsus primus varus survenue (attribut) True congénital Inferred relationship Some 1
Metatarsus primus varus of bilateral feet (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Metatarsus primus varus of bilateral feet (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital hydronephrosis due to ureteral orifice obstruction survenue (attribut) True congénital Inferred relationship Some 2
Congenital obstruction of ureter (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital hydronephrosis due to bladder obstruction survenue (attribut) True congénital Inferred relationship Some 3
Congenital hydronephrosis due to ureteropelvic junction obstruction (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Congenital hydronephrosis due to ureteropelvic junction obstruction (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital lumbosacral spondylolisthesis survenue (attribut) True congénital Inferred relationship Some 1
Mild androgen insensitivity syndrome survenue (attribut) True congénital Inferred relationship Some 2
Mild androgen insensitivity syndrome survenue (attribut) True congénital Inferred relationship Some 1
Infertile male syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Infertile male syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital talipes equinovarus survenue (attribut) True congénital Inferred relationship Some 2
Congenital talipes equinovarus survenue (attribut) True congénital Inferred relationship Some 1
X-linked intellectual disability hypotonic face syndrome survenue (attribut) True congénital Inferred relationship Some 1
Fatty acid oxidation defect (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Deficiency of 3-hydroxyacyl-CoA dehydrogenase survenue (attribut) True congénital Inferred relationship Some 1
Congenital pterygium of nail (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital arcus juvenilis survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive Charcot-Marie-Tooth disease type 2 survenue (attribut) False congénital Inferred relationship Some 1
Autosomal recessive epidermolysis bullosa simplex survenue (attribut) True congénital Inferred relationship Some 1
X-linked complex hereditary spastic paraplegia survenue (attribut) False congénital Inferred relationship Some 2
X-linked complex hereditary spastic paraplegia survenue (attribut) False congénital Inferred relationship Some 1
X-linked pure hereditary spastic paraplegia survenue (attribut) False congénital Inferred relationship Some 2
X-linked pure hereditary spastic paraplegia survenue (attribut) False congénital Inferred relationship Some 1
Congenital lethal erythroderma (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Generalized congenital lipodystrophy with myopathy (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital interstitial cell of Cajal hyperplasia with neuronal intestinal dysplasia survenue (attribut) True congénital Inferred relationship Some 1
Congenital interstitial cell of Cajal hyperplasia with neuronal intestinal dysplasia survenue (attribut) True congénital Inferred relationship Some 2
Cavernous lymphangioma survenue (attribut) True congénital Inferred relationship Some 1
3q29 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
3q13 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Distal monosomy 6p (disorder) survenue (attribut) True congénital Inferred relationship Some 1
6p22 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Deletion of part of short arm of chromosome 6 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
syndrome de microdélétion 17q23.1q23.2 survenue (attribut) True congénital Inferred relationship Some 1
Distal monosomy 17q (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Deletion of part of long arm of chromosome 17 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
17q12 microdeletion syndrome survenue (attribut) True congénital Inferred relationship Some 1
Deletion of part of short arm of chromosome 12 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Deletion of part of short arm of chromosome 12 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Deletion of part of long arm of chromosome 12 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Partial deletion of long arm of chromosome 15 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Partial deletion of long arm of chromosome 15 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Distal monosomy 15q survenue (attribut) True congénital Inferred relationship Some 2
15q14 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
15q13.3 microdeletion survenue (attribut) True congénital Inferred relationship Some 2
15q24 microdeletion survenue (attribut) True congénital Inferred relationship Some 2
Tetrasomy 15q (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Angelman syndrome due to maternal monosomy 15q11q13 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Angelman syndrome due to maternal monosomy 15q11q13 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Partial duplication of long arm of chromosome 15 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Partial duplication of long arm of chromosome 15 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
15q13.3 microduplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
15q11q13 microduplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital abnormality of right atrioventricular valve papillary muscle survenue (attribut) True congénital Inferred relationship Some 1
Congenital fusion of right atrioventricular valve papillary muscles survenue (attribut) True congénital Inferred relationship Some 1
Congenital hypoplastic right atrioventricular valve papillary muscle (disorder) survenue (attribut) True congénital Inferred relationship Some 1
malformation en parachute congénitale de la valve atrioventriculaire gauche (trouble) survenue (attribut) True congénital Inferred relationship Some 1
Congenital fusion of left atrioventricular valve papillary muscles survenue (attribut) True congénital Inferred relationship Some 1
Congenital hypoplastic left atrioventricular valve papillary muscle (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Partial deletion of long arm of chromosome 16 survenue (attribut) True congénital Inferred relationship Some 1
Partial deletion of long arm of chromosome 16 survenue (attribut) True congénital Inferred relationship Some 2
16q24.3 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 16 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Chromosome 16p11.2 deletion syndrome survenue (attribut) True congénital Inferred relationship Some 2
Duplication of part of short arm of chromosome 16 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Duplication of part of short arm of chromosome 16 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Proximal 16p11.2 microduplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
16p13.11 microduplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
16p13.3 microduplication syndrome survenue (attribut) True congénital Inferred relationship Some 2
syndrome de microduplication 16p11.2p12.2 survenue (attribut) True congénital Inferred relationship Some 2
Duplication of part of long arm of chromosome 16 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Duplication of part of long arm of chromosome 16 (disorder) survenue (attribut) True congénital Inferred relationship Some 2

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