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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
Distal trisomy 16q (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Mosaic trisomy 10 syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Mosaic trisomy 12 syndrome survenue (attribut) True congénital Inferred relationship Some 2
Mosaic trisomy 14 syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Distal trisomy 20q syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Distal trisomy 22q syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Distal trisomy 2p survenue (attribut) True congénital Inferred relationship Some 1
Distal trisomy 3p (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Distal trisomy 9q survenue (attribut) True congénital Inferred relationship Some 1
Encircling double aortic arch survenue (attribut) True congénital Inferred relationship Some 1
Familial focal epilepsy with variable foci survenue (attribut) True congénital Inferred relationship Some 1
Familial isolated trichomegaly survenue (attribut) True congénital Inferred relationship Some 1
Distal 22q11.2 microduplication syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Cylindrical spirals myopathy (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Gouty neuritis survenue (attribut) False congénital Inferred relationship Some
Cheilognathoschisis (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Cheilognathoprosoposchisis survenue (attribut) True congénital Inferred relationship Some 1
Cleft mandible survenue (attribut) True congénital Inferred relationship Some 1
Cleft of primary palate survenue (attribut) True congénital Inferred relationship Some 1
Bilateral cleft of primary palate survenue (attribut) True congénital Inferred relationship Some 1
Cleft hard palate with cleft lip, bilateral survenue (attribut) True congénital Inferred relationship Some 1
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Kapur Toriello syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Cleft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla survenue (attribut) True congénital Inferred relationship Some 1
Bilateral complete cleft lip and bilateral complete cleft of alveolar process of maxilla (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Craniofacial cleft (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Mosaic trisomy 15 syndrome survenue (attribut) True congénital Inferred relationship Some 2
Mosaic trisomy 16 syndrome survenue (attribut) True congénital Inferred relationship Some 2
Mosaic trisomy 17 syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Mosaic trisomy 2 syndrome survenue (attribut) True congénital Inferred relationship Some 2
Mosaic trisomy 20 syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Mosaic trisomy 22 syndrome survenue (attribut) True congénital Inferred relationship Some 2
Mosaic trisomy 3 syndrome survenue (attribut) True congénital Inferred relationship Some 2
Mosaic trisomy 4 syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Mosaic trisomy 5 syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Mosaic trisomy 7 syndrome survenue (attribut) True congénital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 15 survenue (attribut) False congénital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 35 survenue (attribut) False congénital Inferred relationship Some 2
Tetrasomy 21 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Distal 17p13.3 microdeletion syndrome survenue (attribut) True congénital Inferred relationship Some 2
Verloove Vanhorick Brubakk syndrome survenue (attribut) True congénital Inferred relationship Some 3
syndrome de microduplication 7p22.1 survenue (attribut) True congénital Inferred relationship Some 1
syndrome de duplication Xq12-q13.3 survenue (attribut) True congénital Inferred relationship Some 1
9p13 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome survenue (attribut) True congénital Inferred relationship Some 5
Progressive external ophthalmoplegia, myopathy, emaciation syndrome survenue (attribut) True congénital Inferred relationship Some 3
X-linked agammaglobulinemia survenue (attribut) True congénital Inferred relationship Some 1
X-linked agammaglobulinemia with growth hormone deficiency survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 21 survenue (attribut) False congénital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 43 (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Proximal chromosome 18q deletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Branchiootic syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) survenue (attribut) False congénital Inferred relationship Some 4
Autosomal dominant slowed nerve conduction velocity survenue (attribut) True congénital Inferred relationship Some 1
Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome survenue (attribut) True congénital Inferred relationship Some 1
myopathie distale précoce type Laing survenue (attribut) False congénital Inferred relationship Some 2
Intellectual disability Birk-Barel type survenue (attribut) True congénital Inferred relationship Some 1
Microphthalmos co-occurrent with congenital ocular coloboma (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Fundus albipunctatus survenue (attribut) True congénital Inferred relationship Some 1
Congenital muscular dystrophy type 1B survenue (attribut) False congénital Inferred relationship Some 2
Congenital myopathy with internal nuclei and atypical cores (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Cryptorchidism, arachnodactyly, intellectual disability syndrome survenue (attribut) True congénital Inferred relationship Some 1
Laubry Pezzi syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
King Denborough syndrome survenue (attribut) True congénital Inferred relationship Some 2
Intellectual disability, myopathy, short stature, endocrine defect syndrome survenue (attribut) True congénital Inferred relationship Some 2
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency survenue (attribut) True congénital Inferred relationship Some 1
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Familial thoracic aortic aneurysm and aortic dissection survenue (attribut) True congénital Inferred relationship Some 1
Mosaic trisomy 9 syndrome survenue (attribut) True congénital Inferred relationship Some 2
Muscle filaminopathy survenue (attribut) True congénital Inferred relationship Some 1
Myopathy with hexagonally cross-linked tubular arrays survenue (attribut) True congénital Inferred relationship Some 1
trisomie non distale 13q survenue (attribut) True congénital Inferred relationship Some 1
Non-distal trisomy 9q survenue (attribut) True congénital Inferred relationship Some 1
Membranous ventricular septum defect survenue (attribut) False congénital Inferred relationship Some
Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 62 survenue (attribut) False congénital Inferred relationship Some 2
SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Spheroid body myopathy survenue (attribut) True congénital Inferred relationship Some 1
Rolandic epilepsy, speech dyspraxia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Metastatic malignant neoplasm to ectopic female breast tissue survenue (attribut) False congénital Inferred relationship Some
Metastatic malignant neoplasm to ectopic male breast tissue survenue (attribut) False congénital Inferred relationship Some
Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital retinal aneurysm survenue (attribut) False congénital Inferred relationship Some
Mosaic trisomy 5 syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Otofaciocervical syndrome survenue (attribut) True congénital Inferred relationship Some 1
Otofaciocervical syndrome survenue (attribut) True congénital Inferred relationship Some 2
Mosaic trisomy 9 syndrome survenue (attribut) True congénital Inferred relationship Some 1
9p13 microdeletion syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Right aortic arch and left descending aorta survenue (attribut) True congénital Inferred relationship Some 1
Mosaic trisomy 3 syndrome survenue (attribut) True congénital Inferred relationship Some 1
Connective tissue disorder due to lysyl hydroxylase-3 deficiency survenue (attribut) True congénital Inferred relationship Some 1
Incomplete left cleft lip and incomplete cleft of left alveolar process of maxilla survenue (attribut) True congénital Inferred relationship Some 1
Oro-facial digital syndrome type 9 (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Renal hepatic pancreatic dysplasia (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Renal hepatic pancreatic dysplasia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Cleft hard palate with right cleft lip and cleft of right alveolar process of maxilla (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Double aortic arch with both patent survenue (attribut) True congénital Inferred relationship Some 1
Double aortic arch with left arch dominant and coarctation of right arch (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Low set ears survenue (attribut) True congénital Inferred relationship Some 1

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