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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
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
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
135131000052119 medfödd sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


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
Retroaortic brachiocephalic vein (disorder) Occurrence True Congenital Inferred relationship Some 1
Interatrial communication through coronary sinus orifice (disorder) Occurrence True Congenital Inferred relationship Some 1
Ventricular septal defect with posterior malaligned outlet septum with overriding aortic valve (disorder) Occurrence True Congenital Inferred relationship Some 1
Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve (disorder) Occurrence True Congenital Inferred relationship Some 1
Total anomalous pulmonary venous connection of supracardiac type (disorder) Occurrence True Congenital Inferred relationship Some 1
Coarctation of right pulmonary artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Total anomalous pulmonary venous connection of intracardiac type (disorder) Occurrence True Congenital Inferred relationship Some 1
Infracardiac location of anomalous pulmonary venous connection (disorder) Occurrence True Congenital Inferred relationship Some 1
Intracardiac location of anomalous pulmonary venous connection (disorder) Occurrence True Congenital Inferred relationship Some 1
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Total anomalous pulmonary venous connection of infracardiac type (disorder) Occurrence True Congenital Inferred relationship Some 1
Coarctation of left pulmonary artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Common atrioventricular valve in functionally univentricular heart (disorder) Occurrence True Congenital Inferred relationship Some 1
Double outlet right ventricle with subpulmonary ventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Left inferior vena cava connecting to left sided atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
Left inferior vena cava connecting to right sided atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal origin of brachiocephalic artery with tracheal compression (disorder) Occurrence True Congenital Inferred relationship Some 1
Ebstein's anomaly of left atrioventricular valve in functionally univentricular heart (disorder) Occurrence True Congenital Inferred relationship Some 2
Ebstein's anomaly of left atrioventricular valve in functionally univentricular heart (disorder) Occurrence True Congenital Inferred relationship Some 1
Ebstein's anomaly of right atrioventricular valve in functionally univentricular heart (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypoplasia of pulmonary cusps of absent pulmonary valve type (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital syphilitic osteochondritis Occurrence True Congenital Inferred relationship Some 2
Congenital syphilitic osteochondritis Occurrence True Congenital Inferred relationship Some 1
Desmosterolosis (disorder) Occurrence True Congenital Inferred relationship Some 1
parodontit samtidigt med Ehlers-Danlos syndrom typ 4 Occurrence False Congenital Inferred relationship Some 2
Thrombocytopathy, asplenia and miosis (disorder) Occurrence True Congenital Inferred relationship Some 5
Hoyeraal-Hreidarsson syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Infective endarteritis at site of aortopulmonary window Occurrence True Congenital Inferred relationship Some 2
Anomalous origin of circumflex artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of left anterior descending coronary artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus Occurrence True Congenital Inferred relationship Some 2
Anomalous origin of left anterior descending artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery and right coronary artery from aortic sinus to left of nonfacing aortic sinus (disorder) Occurrence True Congenital Inferred relationship Some 2
Anomalous origin of left anterior descending artery and right coronary artery from aortic sinus to right of nonfacing aortic sinus and anomalous origin of circumflex artery from aortic sinus to left of nonfacing aortic sinus (disorder) Occurrence True Congenital Inferred relationship Some 3
Fibrous dysplasia of bone with intramuscular myxoma Occurrence True Congenital Inferred relationship Some 2
Timothy syndrome type 1 (disorder) Occurrence True Congenital Inferred relationship Some 2
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant Occurrence True Congenital Inferred relationship Some 4
Multiple venous malformation of skin and mucous membrane (disorder) Occurrence True Congenital Inferred relationship Some 2
Potocki-Shaffer syndrome Occurrence True Congenital Inferred relationship Some 3
Potocki-Shaffer syndrome Occurrence True Congenital Inferred relationship Some 2
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Occurrence True Congenital Inferred relationship Some 3
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Occurrence True Congenital Inferred relationship Some 4
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Occurrence True Congenital Inferred relationship Some 5
Kuskokwim syndrome Occurrence True Congenital Inferred relationship Some 1
Microcephaly-capillary malformation syndrome Occurrence True Congenital Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Occurrence True Congenital Inferred relationship Some 6
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Occurrence True Congenital Inferred relationship Some 7
Muscular ventricular septal defect in trabecular septum (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital organoaxial volvulus of stomach Occurrence True Congenital Inferred relationship Some 1
Pancreas divisum Occurrence True Congenital Inferred relationship Some 2
Synchilia Occurrence True Congenital Inferred relationship Some 1
Cleft leaflet of tricuspid valve Occurrence True Congenital Inferred relationship Some 1
Imperforate hymen Occurrence True Congenital Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of neck (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of scalp (disorder) Occurrence True Congenital Inferred relationship Some 1
Situs inversus abdominalis Occurrence True Congenital Inferred relationship Some 1
Congenital mesenteroaxial volvulus of stomach Occurrence True Congenital Inferred relationship Some 1
Erythrokeratodermia variabilis Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive dyskeratosis congenita Occurrence True Congenital Inferred relationship Some 2
Autosomal dominant dyskeratosis congenita (disorder) Occurrence True Congenital Inferred relationship Some 2
X-linked dyskeratosis congenita (disorder) Occurrence True Congenital Inferred relationship Some 2
Situs inversus thoracis Occurrence True Congenital Inferred relationship Some 1
Hereditary elliptocytosis due to abnormal protein 4.1 Occurrence True Congenital Inferred relationship Some 4
Fibrous dysplasia of jaw Occurrence True Congenital Inferred relationship Some 1
Duchenne muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Angelman syndrome Occurrence True Congenital Inferred relationship Some 1
Neu-Laxova syndrome Occurrence True Congenital Inferred relationship Some 3
Neu-Laxova syndrome Occurrence True Congenital Inferred relationship Some 1
Complete phocomelia of upper limb Occurrence True Congenital Inferred relationship Some 1
Cleft leaflet of mitral valve Occurrence True Congenital Inferred relationship Some 1
Ehlers-Danlos syndrome, familial joint laxity type Occurrence True Congenital Inferred relationship Some 4
Hereditary elliptocytosis due to beta spectrin defect in self-association Occurrence True Congenital Inferred relationship Some 4
Marshall-Smith syndrome Occurrence True Congenital Inferred relationship Some 2
Kommerell's diverticulum Occurrence True Congenital Inferred relationship Some 1
Mucopolysaccharidosis, MPS-IV-A Occurrence True Congenital Inferred relationship Some 1
Double outlet right ventricle Occurrence True Congenital Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Occurrence True Congenital Inferred relationship Some 2
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 5
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 4
Septo-optic dysplasia sequence Occurrence True Congenital Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence True Congenital Inferred relationship Some 6
Steatocystoma multiplex with natal tooth syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Multiple epiphyseal dysplasia Beighton type (disorder) Occurrence True Congenital Inferred relationship Some 4
Haddad syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Occurrence True Congenital Inferred relationship Some 4
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 9
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Occurrence True Congenital Inferred relationship Some 6
Dermo-odonto dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 4
Hirschsprung disease with deafness and polydactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Hirschsprung disease with deafness and polydactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Hirschsprung disease with type D brachydactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Johnson neuroectodermal syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Hirschsprung disease of rectosigmoid region (disorder) Occurrence True Congenital Inferred relationship Some 3
Extensive aganglionosis Hirschsprung disease (disorder) Occurrence True Congenital Inferred relationship Some 3
Okamoto syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Book syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Revesz syndrome (disorder) Occurrence True Congenital Inferred relationship Some 11
Autosomal recessive spastic paraplegia type 55 (disorder) Occurrence False Congenital Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 57 (disorder) Occurrence False Congenital Inferred relationship Some 3
Schimke immuno-osseous dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 3
Retinohepatoendocrinologic syndrome (disorder) Occurrence False Congenital Inferred relationship Some 1
Retinohepatoendocrinologic syndrome (disorder) Occurrence False Congenital Inferred relationship Some 2
X-linked hereditary spastic paraplegia (disorder) Occurrence False Congenital Inferred relationship Some 2

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