255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\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	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Accessory hepatic duct	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital stenosis of the anterior nares	Occurrence	True	Congenital	Inferred relationship	Some	1
Occipital meningocele (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Pulmonary valve overriding ventricular septum (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital stenosis of mitral valve	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital stenosis of aortic arch	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital elephantiasis	Occurrence	True	Congenital	Inferred relationship	Some	1
Truncal valve overriding ventricular septum (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Fenestrated interatrial communication within oval fossa (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital obstruction of aqueduct of Sylvius	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital stenosis of vena cava	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital exophthalmos	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital mass of mitral leaflet (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Redundant prepuce	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hepatic fibrosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital stenosis of inferior vena cava	Occurrence	True	Congenital	Inferred relationship	Some	1
Nephronophthisis hepatic fibrosis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Nephronophthisis hepatic fibrosis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital stenosis of pulmonary valve	Occurrence	True	Congenital	Inferred relationship	Some	1
Microcolon	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital stenosis of aortic valve	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital stenosis of cardiac valve (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital stenosis of external auditory canal	Occurrence	True	Congenital	Inferred relationship	Some	1
Calcific aortic stenosis - bicuspid valve	Occurrence	True	Congenital	Inferred relationship	Some	1
Frontal bossing	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital obstruction of bladder neck	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital chylothorax	Occurrence	True	Congenital	Inferred relationship	Some	1
Spleen in right sided position (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hourglass stomach (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Right inferior vena cava connecting to left atrium and right atrium (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital obstruction of bile duct	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital obstruction of urethra	Occurrence	True	Congenital	Inferred relationship	Some	1
medfödd blockering av tårgång	Occurrence	False	Congenital	Inferred relationship	Some	1
Congenital obstruction of lacrimal canal	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital obstruction of ureteropelvic junction	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital nasolacrimal duct obstruction	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital epithelial dysplasia of intestine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Bilateral congenital vertical talus	Occurrence	True	Congenital	Inferred relationship	Some	8
Bilateral congenital vertical talus	Occurrence	True	Congenital	Inferred relationship	Some	6
Bilateral congenital vertical talus	Occurrence	True	Congenital	Inferred relationship	Some	7
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	6
Iniencephaly - open	Occurrence	True	Congenital	Inferred relationship	Some	5
Parachute malformation of common atrioventricular valve	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital microcephaly (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Occurrence	True	Congenital	Inferred relationship	Some	1
Amish lethal microcephaly (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Achalasia microcephaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Hitch-hiker thumb	Occurrence	True	Congenital	Inferred relationship	Some	1
Dysmorphic sialidosis, congenital form	Occurrence	True	Congenital	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta	Occurrence	True	Congenital	Inferred relationship	Some	5
Congenital hydronephrosis due to ureteral obstruction (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hydronephrosis due to bladder obstruction	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital retinoschisis	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital retinoschisis	Occurrence	True	Congenital	Inferred relationship	Some	1
Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia	Occurrence	True	Congenital	Inferred relationship	Some	2
Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hydronephrosis due to ureteral orifice obstruction	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant sideroblastic anemia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hemoglobin C beta thalassemia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital microencephaly (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Haemoglobin Paksé disease	Occurrence	True	Congenital	Inferred relationship	Some	2
Hemoglobin Seal Rock disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital pigmented melanocytic nevus of skin of right ear (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital pigmented melanocytic naevus of skin of left ear	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital pigmented melanocytic nevus of skin of lip	Occurrence	True	Congenital	Inferred relationship	Some	1
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Microcephaly with simplified gyral pattern	Occurrence	True	Congenital	Inferred relationship	Some	2
Infection of urachal sinus	Occurrence	True	Congenital	Inferred relationship	Some	2
Infection of urachal remnant (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Infection of urachal sinus	Occurrence	True	Congenital	Inferred relationship	Some	1
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Curry-Hall syndrome	Occurrence	True	Congenital	Inferred relationship	Some	5
7q partial trisomy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
10q22.3q23.3 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Non-distal monosomy 10q (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Distal monosomy 10q syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
2q23.1 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
7q11.23 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Medial duplication of long arm of chromosome 7 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Proximal deletion of long arm of chromosome 10 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
7p partial trisomy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Distal trisomy 7p syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
7p22.1 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
1p21.3 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Proximal deletion of short arm of chromosome 1	Occurrence	True	Congenital	Inferred relationship	Some	2
1q44 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
1q41q42 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Proximal deletion of long arm of chromosome 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
22q13.3 deletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Distal 22q11.2 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
22q partial trisomy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Distal trisomy 22q syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Distal 22q11.2 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
21q partial trisomy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Trisomy 21- mitotic nondisjunction mosaicism	Occurrence	True	Congenital	Inferred relationship	Some	2
21q partial distal trisomy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Translocation Down syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Endosteal hyperostoses with cerebellar hypoplasia	Occurrence	True	Congenital	Inferred relationship	Some	6

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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
135131000052119	medfödd	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)