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255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Case insensitive SNOMED CT core
380599019 Congenita en Synonym Active Case insensitive SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Case insensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial digital arthropathy and brachydactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Nasofrontal encephalocele Occurrence True Congenital Inferred relationship Some 1
Nasofrontal encephalocele Occurrence False Congenital Inferred relationship Some 3
Hydrencephalomeningocele Occurrence False Congenital Inferred relationship Some 1
Hydrencephalomeningocele Occurrence False Congenital Inferred relationship Some 2
Nasopharyngeal encephalocele Occurrence True Congenital Inferred relationship Some 1
Nasopharyngeal encephalocele Occurrence False Congenital Inferred relationship Some 3
Autosomal dominant palmoplantar keratoderma and congenital alopecia Occurrence True Congenital Inferred relationship Some 3
OSLAM syndrome Occurrence True Congenital Inferred relationship Some 2
Vascular ring with left aortic arch and right arterial duct arising from aberrant retro-oesophageal innominate artery Occurrence True Congenital Inferred relationship Some 1
Vascular ring with left aortic arch and retrotracheal right patent arterial duct Occurrence True Congenital Inferred relationship Some 1
Vascular ring with left aortic arch and right arterial duct arising from aberrant retro-oesophageal right subclavian artery Occurrence True Congenital Inferred relationship Some 1
Anterior lenticonus Occurrence True Congenital Inferred relationship Some 1
Bethlem myopathy Occurrence True Congenital Inferred relationship Some 1
Brachydactyly and arterial hypertension syndrome Occurrence True Congenital Inferred relationship Some 2
Infracardiac location of anomalous pulmonary venous connection to patent venous duct Occurrence True Congenital Inferred relationship Some 1
Vascular ring with left aortic arch and right arterial duct arising from retro-oesophageal aortic diverticulum and aberrant right subclavian artery Occurrence True Congenital Inferred relationship Some 2
Brittle cornea syndrome Occurrence True Congenital Inferred relationship Some 2
Reduction anomaly of hypothalamus Occurrence False Congenital Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Occurrence True Congenital Inferred relationship Some 1
Bipartite ossification of interparietal bone Occurrence True Congenital Inferred relationship Some 1
Encephalocele of orbit Occurrence True Congenital Inferred relationship Some 2
Vascular ring with left aortic arch and right arterial ligament Occurrence True Congenital Inferred relationship Some 1
Cecoureterocele Occurrence False Congenital Inferred relationship Some 2
Aase Smith type 1 syndrome Occurrence True Congenital Inferred relationship Some 6
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Paired teeth microdontia Occurrence False Congenital Inferred relationship Some 1
Bipartite ossification of centrum of lumbar vertebra Occurrence True Congenital Inferred relationship Some 1
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome Occurrence True Congenital Inferred relationship Some 4
Congenital clubnail Occurrence True Congenital Inferred relationship Some 1
Stickler syndrome Occurrence True Congenital Inferred relationship Some 3
Potocki-Shaffer syndrome Occurrence True Congenital Inferred relationship Some 1
Shprintzen Goldberg omphalocele syndrome Occurrence True Congenital Inferred relationship Some 3
Hypotrichosis with juvenile macular degeneration syndrome Occurrence True Congenital Inferred relationship Some 3
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Occurrence True Congenital Inferred relationship Some 5
Retinal detachment and occipital encephalocoele Occurrence True Congenital Inferred relationship Some 3
Attenuated Chédiak-Higashi syndrome Occurrence False Congenital Inferred relationship Some 2
Localised microdontia Occurrence False Congenital Inferred relationship Some 1
Single tooth microdontia Occurrence False Congenital Inferred relationship Some 1
Omphalocele with gangrene Occurrence True Congenital Inferred relationship Some 3
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome Occurrence False Congenital Inferred relationship Some 3
Periodontitis co-occurrent with Chédiak-Higashi syndrome Occurrence False Congenital Inferred relationship Some 2
Congenital posterolateral diaphragmatic hernia Occurrence True Congenital Inferred relationship Some 1
WAGR syndrome Occurrence True Congenital Inferred relationship Some 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence True Congenital Inferred relationship Some 5
Congenital conductive hearing loss Occurrence True Congenital Inferred relationship Some 1
Macrocephaly, short stature, paraplegia syndrome Occurrence True Congenital Inferred relationship Some 4
Vascular ring with right aortic arch and right arterial ligament with absent left pulmonary artery Occurrence True Congenital Inferred relationship Some 2
Dandy-Walker malformation with postaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Some 3
Immature ganglionosis of large intestine Occurrence True Congenital Inferred relationship Some 1
Vascular ring with right aortic arch and right patent arterial duct with absent left pulmonary artery Occurrence True Congenital Inferred relationship Some 2
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome Occurrence True Congenital Inferred relationship Some 2
Lowry MacLean syndrome Occurrence True Congenital Inferred relationship Some 2
True generalised microdontia Occurrence False Congenital Inferred relationship Some 1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome Occurrence True Congenital Inferred relationship Some 3
Gingival fibromatosis with facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
Idiopathic congenital megacolon Occurrence True Congenital Inferred relationship Some 1
Cerebellar ataxia and ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 2
Drash syndrome Occurrence True Congenital Inferred relationship Some 1
Endocardial fibroelastosis of right atrium Occurrence True Congenital Inferred relationship Some 1
Small left colon syndrome Occurrence True Congenital Inferred relationship Some 1
XTE syndrome Occurrence True Congenital Inferred relationship Some 4
XTE syndrome Occurrence True Congenital Inferred relationship Some 3
Cyanotic congenital heart disease Occurrence True Congenital Inferred relationship Some 1
Obstructed interchordal space of tricuspid chordae tendinae Occurrence True Congenital Inferred relationship Some 1
Micromelic dwarfism Fryns type Occurrence False Congenital Inferred relationship Some 1
Dental midlines coincident and incorrect Occurrence False Congenital Inferred relationship Some 1
Finnish congenital nephrotic syndrome Occurrence True Congenital Inferred relationship Some 1
Primary endocardial fibroelastosis of right ventricle Occurrence False Congenital Inferred relationship Some 1
Hyperganglionosis Occurrence True Congenital Inferred relationship Some 1
Malformation of central nervous system of fetus Occurrence False Congenital Inferred relationship Some 1
Primary endocardial fibroelastosis of left ventricle Occurrence False Congenital Inferred relationship Some 1
Tripartite right ventricle Occurrence True Congenital Inferred relationship Some 1
Right atrial appendage - left - juxtaposition Occurrence True Congenital Inferred relationship Some 1
Primary endocardial fibroelastosis Occurrence False Congenital Inferred relationship Some 1
Prolapse of Eustachian valve through atrial septum Occurrence True Congenital Inferred relationship Some 1
Cutis marmorata Occurrence True Congenital Inferred relationship Some 1
Prolapse of Eustachian valve through tricuspid valve Occurrence True Congenital Inferred relationship Some 1
Unipartite right ventricle Occurrence True Congenital Inferred relationship Some 1
Prominent valve of inferior vena cava Occurrence True Congenital Inferred relationship Some 1
Obstructive Eustachian valve Occurrence True Congenital Inferred relationship Some 1
Prolapse of Eustachian valve Occurrence True Congenital Inferred relationship Some 1
Congenital fissure of nose Occurrence True Congenital Inferred relationship Some 1
Thoracolumbar spina bifida with hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 1
Omphalocele with obstruction Occurrence True Congenital Inferred relationship Some 2
Omphalocele with obstruction Occurrence True Congenital Inferred relationship Some 1
Thoracic spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 1
Mandibuloacral dysostosis Occurrence True Congenital Inferred relationship Some 1
Mandibuloacral dysostosis Occurrence False Congenital Inferred relationship Some 4
Spina bifida with hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 2
Spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 2
Thoracic spina bifida with hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 2
Lumbar spina bifida with hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 2
Sacral spina bifida with hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 2
Beckwith-Wiedemann syndrome Occurrence True Congenital Inferred relationship Some 4
Lethal omphalocele with cleft palate syndrome Occurrence True Congenital Inferred relationship Some 3
Omphalocele with gangrene Occurrence True Congenital Inferred relationship Some 2
Hepatomphalocele Occurrence True Congenital Inferred relationship Some 2
Spina bifida with hydrocephalus Occurrence True Congenital Inferred relationship Some 1
Fissured spine with hydrocephalus Occurrence False Congenital Inferred relationship Some 2
Congenital omphalocele Occurrence True Congenital Inferred relationship Some 2

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Reference Sets

Qualifier value foundation reference set

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