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
Congenital anomaly of anterior chamber of eye	Occurrence	False	Congenital	Inferred relationship	Some
Congenital atresia of colon	Occurrence	False	Congenital	Inferred relationship	Some
Congenital enlargement of coronary sinus	Occurrence	False	Congenital	Inferred relationship	Some
Abnormt antal fligklapper	Occurrence	False	Congenital	Inferred relationship	Some
Cystinuria, type 1	Occurrence	False	Congenital	Inferred relationship	Some
Disorder of tyrosine metabolism	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of all toes	Occurrence	False	Congenital	Inferred relationship	Some
Congenital tuberculosis	Occurrence	False	Congenital	Inferred relationship	Some
Cyclops hypognathus	Occurrence	False	Congenital	Inferred relationship	Some
Congenital eventration of right crus of diaphragm	Occurrence	False	Congenital	Inferred relationship	Some
Royers syndrom	Occurrence	False	Congenital	Inferred relationship	Some
Anomaly of chromosome pair 7	Occurrence	False	Congenital	Inferred relationship	Some
Meckel's diverticulum	Occurrence	False	Congenital	Inferred relationship	Some
Kendt ELLER mistanke om føtal spina bifida med myelomeningocele med indvirkning på obstetrisk behandling	Occurrence	False	Congenital	Inferred relationship	Some	9
Failure of rotation of colon	Occurrence	False	Congenital	Inferred relationship	Some
Hyperlipoproteinemia	Occurrence	False	Congenital	Inferred relationship	Some
4q partial monosomy syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Malrotation of cecum	Occurrence	False	Congenital	Inferred relationship	Some
Anomaly of chromosome pair 12	Occurrence	False	Congenital	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Occurrence	False	Congenital	Inferred relationship	Some
Anomalous pulmonary venous drainage to right atrium	Occurrence	False	Congenital	Inferred relationship	Some
storage disease med glykogenophobning, type X	Occurrence	False	Congenital	Inferred relationship	Some	1
Congenital absence of cervix	Occurrence	False	Congenital	Inferred relationship	Some
Holoacardius	Occurrence	False	Congenital	Inferred relationship	Some
Neonatal hypermethioninemia	Occurrence	False	Congenital	Inferred relationship	Some
Congenital deformity of wall of nasal sinus	Occurrence	False	Congenital	Inferred relationship	Some
Disorder of proline AND/OR hydroxyproline metabolism	Occurrence	False	Congenital	Inferred relationship	Some
Morquio syndrome	Occurrence	False	Congenital	Inferred relationship	Some	2
Enamel pearls	Occurrence	False	Congenital	Inferred relationship	Some
Congenital uterine anomaly	Occurrence	False	Congenital	Inferred relationship	Some
Diskoid nyre	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of urinary bladder (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Periodontal cyst	Occurrence	False	Congenital	Inferred relationship	Some
Accessory ovary	Occurrence	False	Congenital	Inferred relationship	Some
Hyperdicarboxylicaminoaciduria AND hyperprolinemia	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit fissur af tungen	Occurrence	False	Congenital	Inferred relationship	Some
Rotation of tooth	Occurrence	False	Congenital	Inferred relationship	Some	2
Functional asplenia	Occurrence	False	Congenital	Inferred relationship	Some
Hydromyelocele	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of integument	Occurrence	False	Congenital	Inferred relationship	Some
Encefalooftalmisk dysplasi	Occurrence	False	Congenital	Inferred relationship	Some
Oculodentodigital syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of ovary	Occurrence	False	Congenital	Inferred relationship	Some
Fetal warfarin syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital porencephaly	Occurrence	False	Congenital	Inferred relationship	Some
Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. Various anomalies of the breasts and nipples, and variable involvement of the hand and forearm (some patients having normal hands) have also been reported. The absence of other muscles around the shoulder girdle is a frequent feature. The syndrome is thought to be of vascular origin, for example a result of a disruption in the blood supply in the subclavian artery. Poland syndrome is most commonly a sporadic condition, but rare familial cases have been reported, compatible with an autosomal dominant mode of inheritance.	Occurrence	False	Congenital	Inferred relationship	Some
cystathion-gamma-lyasemangel	Occurrence	False	Congenital	Inferred relationship	Some
Persistent left posterior cardinal vein	Occurrence	False	Congenital	Inferred relationship	Some
Uterus arcuatus	Occurrence	False	Congenital	Inferred relationship	Some
Cranial duplication	Occurrence	False	Congenital	Inferred relationship	Some
Congenital duplication of intestine	Occurrence	False	Congenital	Inferred relationship	Some
Langer mesomelic dysplasia syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Displacement of tooth	Occurrence	False	Congenital	Inferred relationship	Some
Sulfite oxidase deficiency	Occurrence	False	Congenital	Inferred relationship	Some
Cystinosis	Occurrence	False	Congenital	Inferred relationship	Some
Pharyngeal pituitary tissue	Occurrence	False	Congenital	Inferred relationship	Some
Mummified fetus	Occurrence	False	Congenital	Inferred relationship	Some
Pectus carinatum	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of skeletal muscle	Occurrence	False	Congenital	Inferred relationship	Some
Alcaptonuria	Occurrence	False	Congenital	Inferred relationship	Some
A lysosomal storage disease, belonging to the group of oligosaccharidosis or with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease with characteristics of gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II (see this term) the more severe, early onset form, with characteristics of progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.	Occurrence	True	Congenital	Inferred relationship	Some	1
Turner syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of the thymus	Occurrence	False	Congenital	Inferred relationship	Some
Congenital fusion of spine	Occurrence	False	Congenital	Inferred relationship	Some
Lutembachers anomali	Occurrence	False	Congenital	Inferred relationship	Some
XXXXY syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of appendix	Occurrence	False	Congenital	Inferred relationship	Some
Syndactyly of toes with fusion of bones	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of auricle with atresia of auditory canal	Occurrence	False	Congenital	Inferred relationship	Some
Deficiency of alpha-dextrin endo-1,6-alpha-glucosidase	Occurrence	True	Congenital	Inferred relationship	Some	1
Tricho-dento-osseous syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Brachyphalangia	Occurrence	False	Congenital	Inferred relationship	Some
Lysinuric protein intolerance	Occurrence	False	Congenital	Inferred relationship	Some
Interruption of aortic arch	Occurrence	False	Congenital	Inferred relationship	Some
Propionyl-CoA carboxylase deficiency	Occurrence	False	Congenital	Inferred relationship	Some
Glutathione synthase deficiency with 5-oxoprolinuria	Occurrence	False	Congenital	Inferred relationship	Some	1
Congenital anomaly of spinal meninges	Occurrence	False	Congenital	Inferred relationship	Some
Ukompliceret bulløs epidermolyse af hænder og fødder	Occurrence	False	Congenital	Inferred relationship	Some
Subungual fibroma	Occurrence	False	Congenital	Inferred relationship	Some
Fundus coloboma	Occurrence	False	Congenital	Inferred relationship	Some
Niemann-Pick disease, type B	Occurrence	True	Congenital	Inferred relationship	Some	1
Dolichocephalic dwarfism	Occurrence	False	Congenital	Inferred relationship	Some
Pachyonychia congenita syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Thyroglossal duct cyst (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital stricture of rectum	Occurrence	False	Congenital	Inferred relationship	Some
Congenital atresia of vas deferens	Occurrence	False	Congenital	Inferred relationship	Some
Redundant prepuce	Occurrence	False	Congenital	Inferred relationship	Some
Congenital depression in skull	Occurrence	False	Congenital	Inferred relationship	Some
Monocephalus	Occurrence	False	Congenital	Inferred relationship	Some
Congenital hypoplasia of inner granular layer of cerebellum	Occurrence	False	Congenital	Inferred relationship	Some
Hypoplasia of right heart	Occurrence	False	Congenital	Inferred relationship	Some
Facio-auriculo-vertebral spectrum (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Transposition of intestine	Occurrence	False	Congenital	Inferred relationship	Some
Gingival cyst of newborn	Occurrence	False	Congenital	Inferred relationship	Some
Congenital atresia of nares	Occurrence	False	Congenital	Inferred relationship	Some
Ectrodactyly-ectodermal dysplasia-clefting syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Hand-Schüller-Christians sygdom	Occurrence	False	Congenital	Inferred relationship	Some
Ochronotic arthritis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of trachea	Occurrence	False	Congenital	Inferred relationship	Some
Scimitar syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Disorder of fatty acid metabolism	Occurrence	True	Congenital	Inferred relationship	Some	1

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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)