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66091009: Congenital disease (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
109766011 Congenital disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
500308011 Congenital disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
805666017 Congenital disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3921000077116 maladie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
10211000188115 pathologie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

10736 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital disease Is a Disease false Inferred relationship Some
Congenital disease Occurrence Congenital true Inferred relationship Some 1
Congenital disease Is a Fetal and/or neonatal disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital anomaly of gastrointestinal tract Is a False Congenital disease Inferred relationship Some
Placenta previa centralis Is a False Congenital disease Inferred relationship Some
Lymphadenopathy due to congenital toxoplasmosis Is a False Congenital disease Inferred relationship Some
Placenta previa marginalis Is a False Congenital disease Inferred relationship Some
dents incluses en position anormale Is a False Congenital disease Inferred relationship Some
Steatocystoma multiplex Is a False Congenital disease Inferred relationship Some
Saccular dilatation of right superior vena cava (disorder) Is a False Congenital disease Inferred relationship Some
Congenital velopharyngeal incompetence Is a False Congenital disease Inferred relationship Some
Congenital inguinal hernia (disorder) Is a False Congenital disease Inferred relationship Some
obstruction congénitale d'un canalicule lacrymal Is a False Congenital disease Inferred relationship Some
Coronary sinus abnormality Is a False Congenital disease Inferred relationship Some
Congenital anomaly of back Is a False Congenital disease Inferred relationship Some
A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others. Is a False Congenital disease Inferred relationship Some
Tricuspid leaflet dysplasia Is a False Congenital disease Inferred relationship Some
Family history of congenital disease (situation) Associated finding True Congenital disease Inferred relationship Some 1
Family history: Congenital anomaly NOS Associated finding False Congenital disease Inferred relationship Some 1
H/O: congenital anomaly Associated finding True Congenital disease Inferred relationship Some 1
Congenital anomaly of head Is a False Congenital disease Inferred relationship Some
Preauricular dimple Is a False Congenital disease Inferred relationship Some
Congenital anomaly of neck Is a False Congenital disease Inferred relationship Some
kyste congénital d'une trompe utérine Is a False Congenital disease Inferred relationship Some
History of - congenital anomaly NOS Associated finding False Congenital disease Inferred relationship Some 1
Congenital exophthalmos Is a False Congenital disease Inferred relationship Some
Congenital cyst of vulva Is a True Congenital disease Inferred relationship Some
A rare group of genetic, cardiac rhythm diseases with characteristics of a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias. The two cardinal manifestations are syncopal episodes, which may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities: prolongation of the QT interval and T wave abnormalities. Inheritance may be autosomal dominant or autosomal recessive and depends on the genes involved. Is a False Congenital disease Inferred relationship Some
Congenital anomaly Is a False Congenital disease Inferred relationship Some
Family history of congenital disease (situation) Associated finding False Congenital disease Inferred relationship Some 1
Congenital meningocele Is a True Congenital disease Inferred relationship Some
Mottled teeth, congenital Is a True Congenital disease Inferred relationship Some
incurvation posturale congénitale de la colonne vertébrale Is a False Congenital disease Inferred relationship Some
Progressive myositis ossificans Is a False Congenital disease Inferred relationship Some
Congenital leptomeningeal angiomatosis Is a True Congenital disease Inferred relationship Some
Congenital kyphoscoliosis (disorder) Is a False Congenital disease Inferred relationship Some
Congenital hearing disorder Is a True Congenital disease Inferred relationship Some
Congenital asymmetry of tonsils (disorder) Is a False Congenital disease Inferred relationship Some
Congenital postural scoliosis Is a False Congenital disease Inferred relationship Some
Congenital cutaneous angiomatosis Is a True Congenital disease Inferred relationship Some
Congenital scoliosis due to bony malformation Is a True Congenital disease Inferred relationship Some
Obstructed pulmonary venous connection at coronary sinus orifice (disorder) Is a False Congenital disease Inferred relationship Some
Tricuspid but functionally bicuspid aortic valve (disorder) Is a True Congenital disease Inferred relationship Some
Congenital mass of mitral leaflet (disorder) Is a False Congenital disease Inferred relationship Some
Subarterial ventricular septal defect (disorder) Is a False Congenital disease Inferred relationship Some
Systemic venovenous collateral vein (disorder) Is a True Congenital disease Inferred relationship Some
Trifoliate left atrioventricular valve (disorder) Is a False Congenital disease Inferred relationship Some
Left atrioventricular valve bifoliate with fused left sided superior and inferior bridging leaflet (disorder) Is a False Congenital disease Inferred relationship Some
Gelatinous atrioventricular valve leaflet in atrioventricular septal defect (disorder) Is a False Congenital disease Inferred relationship Some
Confluent muscular ventricular septal defect (disorder) Is a False Congenital disease Inferred relationship Some
Discontinuity between mitral valve and pulmonary valve (disorder) Is a False Congenital disease Inferred relationship Some
Muscular ventricular septal defect in trabecular septum (disorder) Is a False Congenital disease Inferred relationship Some
Continuity between mitral valve and pulmonary valve (disorder) Is a False Congenital disease Inferred relationship Some
Pulmonary atresia with confluent pulmonary arteries Is a False Congenital disease Inferred relationship Some
Nonfenestrated interatrial communication within oval fossa (disorder) Is a False Congenital disease Inferred relationship Some
Fenestrated interatrial communication within oval fossa (disorder) Is a False Congenital disease Inferred relationship Some
Double orifice of right atrioventricular valve in double inlet ventricle (disorder) Is a True Congenital disease Inferred relationship Some
Gouty tophus of heart Is a False Congenital disease Inferred relationship Some
Congenital pericardial effusion (disorder) Is a False Congenital disease Inferred relationship Some
Congenital monosaccharide malabsorption Is a True Congenital disease Inferred relationship Some
Conjoined twins Is a False Congenital disease Inferred relationship Some
Fetal congenital tumor causing disproportion Is a False Congenital disease Inferred relationship Some
Congenital tortuosity of branch of aortic arch (disorder) Is a False Congenital disease Inferred relationship Some
A form of monogenic obesity with characteristics of severe early-onset obesity and marked hyperphagia. Patients with congenital leptin deficiency are severely hyperphagic from early infancy and, although birthweight is normal, they rapidly become obese during early childhood. An increased susceptibility to infections has also been reported in these infants and appears to be associated with reduced numbers of circulating CD4+ T cells, and impaired T cell proliferation and cytokine release. Absence of serum leptin is caused by homozygous frameshift or missense mutations in the ob gene (7q31.3) and is inherited as an autosomal recessive trait. Is a False Congenital disease Inferred relationship Some
Congenital achalasia of esophagus Is a True Congenital disease Inferred relationship Some
Congenital velopharyngeal dysfunction Is a True Congenital disease Inferred relationship Some
Congenital arcus juvenilis Is a False Congenital disease Inferred relationship Some
Congenital choroidal fold Is a False Congenital disease Inferred relationship Some
Congenital posterior subcapsular polar cataract Is a False Congenital disease Inferred relationship Some
Congenital anterior subcapsular polar cataract Is a False Congenital disease Inferred relationship Some
Congenital facial asymmetry Is a True Congenital disease Inferred relationship Some
FOXG1 syndrome Is a False Congenital disease Inferred relationship Some
Congenital cerebellar cortical atrophy (disorder) Is a True Congenital disease Inferred relationship Some
Congenital obstruction of large intestine Is a False Congenital disease Inferred relationship Some
Persistent embryonic trigeminal artery Is a False Congenital disease Inferred relationship Some
Congenital contracture of gastrocnemius muscle (disorder) Is a False Congenital disease Inferred relationship Some
Congenital occlusion of ureter Is a False Congenital disease Inferred relationship Some
Congenital flexion contracture of hip Is a False Congenital disease Inferred relationship Some
Precocious exfoliation of teeth due to idiopathic root resorption (disorder) Is a False Congenital disease Inferred relationship Some
Congenital malformation Is a True Congenital disease Inferred relationship Some
Congenital obstruction of small intestine Is a False Congenital disease Inferred relationship Some
Congenital extension contracture of the knee Is a False Congenital disease Inferred relationship Some
Fordyce's disease Is a False Congenital disease Inferred relationship Some
Congenital obstruction of lacrimal canal Is a False Congenital disease Inferred relationship Some
Congenital obstruction of urethra Is a False Congenital disease Inferred relationship Some
Congenital chromosomal disease Is a True Congenital disease Inferred relationship Some
Persistent embryonic proatlantal intersegmental artery Is a False Congenital disease Inferred relationship Some
Congenital generalized flexion contractures of lower limb joints Is a False Congenital disease Inferred relationship Some
Congenital atrophy of thyroid Is a True Congenital disease Inferred relationship Some
Congenital renal atrophy Is a True Congenital disease Inferred relationship Some
Congenital obstruction of bile duct Is a False Congenital disease Inferred relationship Some
Congenital occlusion of anus Is a False Congenital disease Inferred relationship Some
Persistent embryonic otic artery Is a False Congenital disease Inferred relationship Some
Precocious exfoliation of teeth due to root resorption following trauma (disorder) Is a False Congenital disease Inferred relationship Some
Congenital obstruction of aqueduct of Sylvius Is a False Congenital disease Inferred relationship Some
Congenital obstruction of neck of urinary bladder Is a False Congenital disease Inferred relationship Some
Congenital flexion contracture of knee Is a False Congenital disease Inferred relationship Some
Porokeratosis of Mantoux Is a False Congenital disease Inferred relationship Some
Rotation of tooth Is a False Congenital disease Inferred relationship Some
Congenital abduction contracture of hip Is a False Congenital disease Inferred relationship Some
Congenital nasolacrimal duct obstruction Is a False Congenital disease Inferred relationship Some
Persistent embryonic hypoglossal artery (disorder) Is a False Congenital disease Inferred relationship Some
Undergrowth of the thumb Is a False Congenital disease Inferred relationship Some
Talipes (disorder) Is a False Congenital disease Inferred relationship Some

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