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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
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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
Coffin-Siris syndrome Occurrence False Congenital Inferred relationship Some
syndrome d'Ehlers-Danlos de type cyphoscoliotique Occurrence False Congenital Inferred relationship Some
Turner's tooth Occurrence False Congenital Inferred relationship Some
Bilateral congenital dislocation of hip Occurrence False Congenital Inferred relationship Some
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Occurrence False Congenital Inferred relationship Some
Triploidy, diploidy, mixoploidy syndrome Occurrence False Congenital Inferred relationship Some
Congenital stenosis of cervical canal Occurrence False Congenital Inferred relationship Some
Accessory spleen (disorder) Occurrence False Congenital Inferred relationship Some
Congenital meningocele Occurrence False Congenital Inferred relationship Some
Extrapulmonary subpleural pulmonary sequestration (disorder) Occurrence False Congenital Inferred relationship Some
thrombocytopénie congénitale Occurrence False Congenital Inferred relationship Some
Lesch-Nyhan syndrome Occurrence False Congenital Inferred relationship Some
Agenesis of both forepaws and both hindpaws Occurrence False Congenital Inferred relationship Some
Double aortic arch Occurrence False Congenital Inferred relationship Some
Hyperplasia of islet alpha cells with gastrin excess Occurrence False Congenital Inferred relationship Some
North American Indian intrahepatic cholestasis Occurrence False Congenital Inferred relationship Some
Early congenital syphilis - latent Occurrence False Congenital Inferred relationship Some
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin Occurrence False Congenital Inferred relationship Some
Congenital hypothyroidism Occurrence True Congenital Inferred relationship Some 1
Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). Prevalence is unknown but only around 40 cases have been reported in the literature so far. Tetrasomy X is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported. Tetrasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis. Occurrence False Congenital Inferred relationship Some
Progeria Occurrence False Congenital Inferred relationship Some
Cystinosis Occurrence True Congenital Inferred relationship Some 1
Branching-transferase deficiency glycogenosis Occurrence False Congenital Inferred relationship Some
13q partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Hypoalphalipoproteinaemia Occurrence False Congenital Inferred relationship Some
Abetalipoproteinaemia Occurrence False Congenital Inferred relationship Some
Gaucher's disease Occurrence False Congenital Inferred relationship Some
Hypophosphatasia Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive severe combined immunodeficiency Occurrence False Congenital Inferred relationship Some 1
Galactosylceramide beta-galactosidase deficiency Occurrence False Congenital Inferred relationship Some
Schultz disease Occurrence False Congenital Inferred relationship Some
Metachromatic leucodystrophy Occurrence False Congenital Inferred relationship Some
B variant hexosaminidase A deficiency Occurrence True Congenital Inferred relationship Some 1
Osteochondrodysplasia syndrome Occurrence False Congenital Inferred relationship Some
Congenital skeletal dysplasia (disorder) Occurrence False Congenital Inferred relationship Some
Malformation defect spectrum Occurrence False Congenital Inferred relationship Some
Malformation association Occurrence False Congenital Inferred relationship Some
Malformation sequence Occurrence False Congenital Inferred relationship Some
Congenital anomaly of tongue, salivary gland AND/OR pharynx Occurrence False Congenital Inferred relationship Some
Cyst of female embryonic structure Occurrence False Congenital Inferred relationship Some
anomalie congénitale régionale Occurrence False Congenital Inferred relationship Some 1
Congenital nystagmus Occurrence False Congenital Inferred relationship Some
Trilobed left lung Occurrence False Congenital Inferred relationship Some
A type of supernumerary tooth which has the morphology of a normal fully formed tooth. Occurrence False Congenital Inferred relationship Some
Dentinogenesis imperfecta Occurrence False Congenital Inferred relationship Some
Odontogenesis imperfecta Occurrence False Congenital Inferred relationship Some
Midline deviation of dental arch Occurrence False Congenital Inferred relationship Some
Anterior imbrication of teeth Occurrence False Congenital Inferred relationship Some
Posterior imbrication of teeth Occurrence False Congenital Inferred relationship Some
Midline diastema of teeth Occurrence False Congenital Inferred relationship Some
Spacing of posterior teeth Occurrence False Congenital Inferred relationship Some
Impacted permanent canine tooth Occurrence False Congenital Inferred relationship Some
Impacted third molar tooth Occurrence False Congenital Inferred relationship Some
Branchial vestige Occurrence False Congenital Inferred relationship Some
Obstructed umbilical hernia Occurrence False Congenital Inferred relationship Some
Irreducible umbilical hernia Occurrence False Congenital Inferred relationship Some
Uncomplicated umbilical hernia Occurrence False Congenital Inferred relationship Some
Congenital mandibular hyperplasia Occurrence False Congenital Inferred relationship Some
Finnish congenital nephrotic syndrome Occurrence False Congenital Inferred relationship Some
Macerated fetus Occurrence False Congenital Inferred relationship Some
Congenital anomaly of skin Occurrence False Congenital Inferred relationship Some
Hair nevus Occurrence False Congenital Inferred relationship Some
Gouty arthritis of hand (disorder) Occurrence False Congenital Inferred relationship Some
Gouty arthritis of multiple sites Occurrence False Congenital Inferred relationship Some
Hexadactyly Occurrence False Congenital Inferred relationship Some
X-linked severe combined immunodeficiency Occurrence False Congenital Inferred relationship Some
Idiopathic scoliosis Occurrence False Congenital Inferred relationship Some
Idiopathic kyphoscoliosis Occurrence False Congenital Inferred relationship Some
Neuromuscular kyphosis Occurrence False Congenital Inferred relationship Some
Osteoporotic kyphosis Occurrence False Congenital Inferred relationship Some
Neuromuscular scoliosis Occurrence False Congenital Inferred relationship Some
Iniencephaly - closed Occurrence True Congenital Inferred relationship Some 2
Iniencephaly - open Occurrence True Congenital Inferred relationship Some 2
Cervical spina bifida with hydrocephalus Occurrence False Congenital Inferred relationship Some 6
Thoracic spina bifida with hydrocephalus Occurrence False Congenital Inferred relationship Some 6
Lumbar spina bifida with hydrocephalus Occurrence False Congenital Inferred relationship Some 7
Lissencephaly Occurrence False Congenital Inferred relationship Some
Congenital malformation of corpus callosum Occurrence False Congenital Inferred relationship Some
kyste cérébral congénital unique Occurrence False Congenital Inferred relationship Some
kystes cérébraux congénitaux multiples Occurrence False Congenital Inferred relationship Some
Congenital lamellar cataract Occurrence False Congenital Inferred relationship Some
Coloboma of lens Occurrence False Congenital Inferred relationship Some
Congenital blue dot cataract Occurrence False Congenital Inferred relationship Some
Congenital membranous cataract Occurrence False Congenital Inferred relationship Some
Cornea plana Occurrence False Congenital Inferred relationship Some
Polycoria Occurrence False Congenital Inferred relationship Some
Abnormal blue sclerae Occurrence False Congenital Inferred relationship Some
Vitreous anomalies Occurrence False Congenital Inferred relationship Some
Coloboma of choroid Occurrence False Congenital Inferred relationship Some
Agenesis of punctum lacrimale Occurrence False Congenital Inferred relationship Some
Congenital abnormality of Eustachian tube Occurrence False Congenital Inferred relationship Some
Congenital stenosis of eustachian tube Occurrence False Congenital Inferred relationship Some
Congenital pointed ear Occurrence False Congenital Inferred relationship Some
Fistula of branchial cleft Occurrence False Congenital Inferred relationship Some
Preauricular sinus Occurrence False Congenital Inferred relationship Some
Preauricular fistula Occurrence False Congenital Inferred relationship Some
Discordant ventriculoarterial connection Occurrence False Congenital Inferred relationship Some
The more common indirect type of communication where the flow of blood is from the left ventricle through a ventricular septal defect into the right ventricle and then through a defect in the tricuspid valve into the right atrium. Occurrence False Congenital Inferred relationship Some
Ostium secundum type atrial septal defect Occurrence False Congenital Inferred relationship Some
Patent foramen ovale Occurrence False Congenital Inferred relationship Some
Congenital pulmonary valve abnormality Occurrence False Congenital Inferred relationship Some

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This concept is not in any reference sets

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