255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Fetal and/or neonatal period\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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
Ehlers-Danlos' syndrom, ikke-hydroxylysinfattig okulær type	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	Occurrence	False	Congenital	Inferred relationship	Some
Congenital meningocele	Occurrence	False	Congenital	Inferred relationship	Some
Extrapulmonary subpleural pulmonary sequestration	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit trombocytopeni	Occurrence	False	Congenital	Inferred relationship	Some
Lesch-Nyhan syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Agenesi af begge forpoter og begge bagpoter	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
nordamerikansk indiansk intrahepatisk kolestase	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
A sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). This disorder 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.	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 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Hypoalphalipoproteinaemia	Occurrence	False	Congenital	Inferred relationship	Some
Abetalipoproteinemia	Occurrence	False	Congenital	Inferred relationship	Some
Gaucher's disease	Occurrence	False	Congenital	Inferred relationship	Some
Hypophosphatasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessiv svær kombineret immundefekt	Occurrence	False	Congenital	Inferred relationship	Some	1
Galactosylceramide beta-galactosidase deficiency	Occurrence	False	Congenital	Inferred relationship	Some
agranulocytose som følge af lægemiddelallergi	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
Skeletal dysplasia	Occurrence	False	Congenital	Inferred relationship	Some
Misdannelsesdefektspektrum	Occurrence	False	Congenital	Inferred relationship	Some
Misdannelsesassociation	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
Cyste med embryonal struktur hos kvinde	Occurrence	False	Congenital	Inferred relationship	Some
regional kongenit anomali	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
Midtlinjetandmellemrum	Occurrence	False	Congenital	Inferred relationship	Some
Afstand mellem posteriore tænder	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
brankiogent rudiment	Occurrence	False	Congenital	Inferred relationship	Some
Obstructed umbilical hernia	Occurrence	False	Congenital	Inferred relationship	Some
Irreducible umbilical hernia	Occurrence	False	Congenital	Inferred relationship	Some
ukompliceret umbilikalhernie	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-bundet svær kombineret immundefekt	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
Single congenital cerebral cyst	Occurrence	False	Congenital	Inferred relationship	Some
Multiple congenital cerebral cysts	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
Præaurikulær 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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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
2235951000005117	kongenit	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)