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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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Subependymal nodular heterotopia (disorder) Occurrence True Congenital Inferred relationship Some 1
Pulmonary venous confluence in horizontal orientation (disorder) Occurrence False Congenital Inferred relationship Some 2
Congenital anomaly of alisphenoid bone Occurrence False Congenital Inferred relationship Some 2
Blue rubber bleb naevus Occurrence False Congenital Inferred relationship Some 3
Intermaxillo-palatine dysostosis Occurrence False Congenital Inferred relationship Some 2
Congenital anomaly of interparietal bone (disorder) Occurrence False Congenital Inferred relationship Some 2
Congenital anomaly of superior vena cava Occurrence False Congenital Inferred relationship Some 2
Hermansky-Pudlak syndrome Occurrence True Congenital Inferred relationship Some 2
Anomalous pulmonary venous connection of mixed type (disorder) Occurrence False Congenital Inferred relationship Some 2
Congenital absence of cranial vault (disorder) Occurrence False Congenital Inferred relationship Some 2
Multiple café-au-lait macules due to neurofibromatosis (disorder) Occurrence False Congenital Inferred relationship Some 3
Midline cervical cleft (disorder) Occurrence False Congenital Inferred relationship Some 3
Bayonet hair Occurrence False Congenital Inferred relationship Some 2
Vascular ring with right aortic arch Occurrence False Congenital Inferred relationship Some 2
Congenital alveolar hypoplasia of maxilla Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) Occurrence False Congenital Inferred relationship Some 2
Crouzon disease is characterised by craniosynostosis and facial hypoplasia. Occurrence False Congenital Inferred relationship Some 4
Crouzon disease is characterised by craniosynostosis and facial hypoplasia. Occurrence False Congenital Inferred relationship Some 5
Frontoethmoidal encephalocele Occurrence True Congenital Inferred relationship Some 2
Interrupted aortic arch between left subclavian and left common carotid artery Occurrence False Congenital Inferred relationship Some 2
Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder) Occurrence False Congenital Inferred relationship Some 2
Descending aorta anterior and same side as azygos vein with azygos continuity of inferior vena cava (disorder) Occurrence False Congenital Inferred relationship Some 2
Anomalous origin of right subclavian artery Occurrence False Congenital Inferred relationship Some 2
Congenital absence of pulmonary trunk with non-confluent pulmonary arteries Occurrence False Congenital Inferred relationship Some 2
Scimitar syndrome with additional anomalous pulmonary venous connection (disorder) Occurrence False Congenital Inferred relationship Some 2
Left ventricular outflow tract obstruction due to prolapse of Eustachian valve (disorder) Occurrence False Congenital Inferred relationship Some 2
Congenital vascular malformation of lip (disorder) Occurrence False Congenital Inferred relationship Some 2
Congenital anomaly of adrenal gland Occurrence False Congenital Inferred relationship Some 2
Circumflex runs posterior to aorta Occurrence False Congenital Inferred relationship Some 2
Leptocephaly Occurrence False Congenital Inferred relationship Some 2
Congenital anomaly of basioccipital bone Occurrence False Congenital Inferred relationship Some 2
Aortico-left ventricular tunnel of simple type (disorder) Occurrence False Congenital Inferred relationship Some 3
Congenital malposition of subclavian artery Occurrence False Congenital Inferred relationship Some 2
Aberrant retro-esophageal subclavian artery causing dysphagia Occurrence True Congenital Inferred relationship Some 2
Congenital aneurysm of aorta Occurrence False Congenital Inferred relationship Some 2
Right pulmonary artery with absent proximal arterial connection (disorder) Occurrence False Congenital Inferred relationship Some 2
Pili annulati Occurrence False Congenital Inferred relationship Some 2
Frontal bossing Occurrence False Congenital Inferred relationship Some 2
Malrotation of the intestine type IIID Occurrence False Congenital Inferred relationship Some 2
Ectopic anus Occurrence False Congenital Inferred relationship Some 3
Enteric duplication Occurrence False Congenital Inferred relationship Some 2
Craniofacial microsomia Occurrence False Congenital Inferred relationship Some 2
Congenital hypoplasia of pulmonary artery (disorder) Occurrence False Congenital Inferred relationship Some 2
Granular cell hypoplasia Occurrence False Congenital Inferred relationship Some 2
Neurocutaneous syndrome Occurrence True Congenital Inferred relationship Some 2
Bilateral superior vena cava Occurrence False Congenital Inferred relationship Some 2
Congenital anomaly of palatine bone Occurrence False Congenital Inferred relationship Some 2
Ichthyosis hystrix Bäfverstedt type (disorder) Occurrence False Congenital Inferred relationship Some 2
Left superior caval vein persisting to left sided atrium (disorder) Occurrence False Congenital Inferred relationship Some 2
Kommerell's diverticulum Occurrence False Congenital Inferred relationship Some 2
Congenital anomaly of lower alimentary tract Occurrence False Congenital Inferred relationship Some 2
Atresia of rectum with fistula Occurrence False Congenital Inferred relationship Some 3
Jugular lymphatic obstruction sequence Occurrence False Congenital Inferred relationship Some 2
Congenital absence of interparietal bone Occurrence False Congenital Inferred relationship Some 2
Congenital hypoplasia of adrenal gland Occurrence False Congenital Inferred relationship Some 2
Congenital absence of portal vein Occurrence False Congenital Inferred relationship Some 2
Bipartite ossification of interparietal bone Occurrence False Congenital Inferred relationship Some 2
Congenital absence of mandible Occurrence False Congenital Inferred relationship Some 2
Common arterial trunk with crossed over pulmonary arteries (disorder) Occurrence False Congenital Inferred relationship Some 4
Anomalous origin of right pulmonary artery from ascending aorta Occurrence False Congenital Inferred relationship Some 2
Axillary freckling due to neurofibromatosis (disorder) Occurrence True Congenital Inferred relationship Some 3
Anomalous pulmonary venous drainage to superior vena cava Occurrence False Congenital Inferred relationship Some 2
Vascular ring with right aortic arch and right patent arterial duct with absent left pulmonary artery (disorder) Occurrence False Congenital Inferred relationship Some 3
Congenital enlargement of fontanel Occurrence True Congenital Inferred relationship Some 1
Mesenteric cyst Occurrence False Congenital Inferred relationship Some 4
Nasofrontal encephalocele Occurrence False Congenital Inferred relationship Some 4
Venous valvular anomaly Occurrence False Congenital Inferred relationship Some 2
Vascular ring with left aortic arch and retrotracheal right patent arterial duct (disorder) Occurrence False Congenital Inferred relationship Some 2
A rare type of keratinopathic ichthyosis characterised by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma. The skin is usually normal at birth. The disease starts in early childhood with severe hyperkeratosis of yellow-brown or grey colour, and of spiky, cobblestone-like (hystrix) or verrucous appearance. Contrary to other keratinopathic ichthyoses, no skin fragility/blister formation or erythroderma is present. The disease results from heterozygous frameshift mutation in a section of the KRT1 gene encoding keratin 1 (K1). These mutations lead to an abnormal supramolecular organisation of keratin intermediate filaments and may be related to defects in cytoplasmic trafficking and integrity of cellular structures such as organelles and nucleus. Transmission is autosomal dominant but some sporadic cases have been reported. Occurrence False Congenital Inferred relationship Some 2
Cervical thyroid remnant Occurrence False Congenital Inferred relationship Some 2
Congenital obstruction of lacrimal canal Occurrence False Congenital Inferred relationship Some 2
Infracardiac location of anomalous pulmonary venous connection to hepatic vein (disorder) Occurrence False Congenital Inferred relationship Some 2
Congenital stenosis of aortic arch Occurrence False Congenital Inferred relationship Some 2
Congenital fenestration of parietal bone Occurrence False Congenital Inferred relationship Some 2
Cutaneous syndrome with ichthyosis Occurrence False Congenital Inferred relationship Some 2
Congenital cardiovascular disorder in mother complicating pregnancy, childbirth AND/OR puerperium Occurrence False Congenital Inferred relationship Some 2
Cloverleaf skull syndrome Occurrence True Congenital Inferred relationship Some 3
Absent right superior vena cava Occurrence False Congenital Inferred relationship Some 2
Congenital vascular disorder (disorder) Occurrence True Congenital Inferred relationship Some 2
Preauricular cyst (disorder) Occurrence False Congenital Inferred relationship Some 2
Venous-lymphatic malformation Occurrence False Congenital Inferred relationship Some 3
Congenital occlusion of coronary sinus Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of interparietal bone Occurrence False Congenital Inferred relationship Some 2
Congenital oesophageal ring Occurrence False Congenital Inferred relationship Some 2
Anomalous origin of ductus arteriosus from aortic arch (disorder) Occurrence True Congenital Inferred relationship Some 1
Aplasia cutis congenita due to teratogenic drug (Type 7) (disorder) Occurrence False Congenital Inferred relationship Some 2
Hereditary benign intraepithelial dyskeratosis (disorder) Occurrence False Congenital Inferred relationship Some 4
Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta Occurrence False Congenital Inferred relationship Some 4
Lack of ossification of frontal bone Occurrence True Congenital Inferred relationship Some 2
Interrupted aortic arch (disorder) Occurrence False Congenital Inferred relationship Some 2
Anomalous insertion of ductus arteriosus into distal left pulmonary artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Vascular neurocutaneous syndrome Occurrence True Congenital Inferred relationship Some 2
Vascular ring with left aortic arch and right arterial duct arising from aberrant retroesophageal brachiocephalic artery (disorder) Occurrence False Congenital Inferred relationship Some 2
Sturge-Weber syndrome Occurrence True Congenital Inferred relationship Some 3
Sturge-Weber syndrome Occurrence False Congenital Inferred relationship Some 4
Muscular subvalvar atresia of aorta (disorder) Occurrence False Congenital Inferred relationship Some 2
Localised bullous ichthyosiform erythroderma Occurrence False Congenital Inferred relationship Some 2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital absence of maxilla Occurrence False Congenital Inferred relationship Some 2
Anomalous origin of pulmonary artery Occurrence False Congenital Inferred relationship Some 2
Common arterial trunk and common origin of pulmonary arteries (disorder) Occurrence False Congenital Inferred relationship Some 4

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