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
Anomaly of chromosome pair 17	Occurrence	True	Congenital	Inferred relationship	Some	1
Johanson-Blizzard syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Facial palsy as birth trauma	Occurrence	False	Congenital	Inferred relationship	Some	2
Translocation Down syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Whole chromosome trisomy - mitotic nondisjunction mosaicism	Occurrence	True	Congenital	Inferred relationship	Some	1
Anomaly of chromosome pair 14	Occurrence	True	Congenital	Inferred relationship	Some	1
Coronary sinus orifice atresia	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital phlebectasia	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital phlebectasia	Occurrence	False	Congenital	Inferred relationship	Some	3
21q partial monosomy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Monosomy 21, mosaicism	Occurrence	True	Congenital	Inferred relationship	Some	1
Ring chromosome 21 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital adhesions of cerebral meninges	Occurrence	False	Congenital	Inferred relationship	Some	2
Chromosomal alterations of group D	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital dilatation of atrium	Occurrence	False	Congenital	Inferred relationship	Some	2
Complete cleft hard and soft palate	Occurrence	False	Congenital	Inferred relationship	Some	4
Congenital anisocoria	Occurrence	False	Congenital	Inferred relationship	Some	2
Chromosomal alterations of group G and Y	Occurrence	True	Congenital	Inferred relationship	Some	1
Salt-losing congenital adrenal hyperplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital coronary artery fistula to left ventricle	Occurrence	False	Congenital	Inferred relationship	Some	3
Complete trisomy 18 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
12p partial trisomy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Anomaly of chromosome pair 5	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital deformity of mitral valve annulus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Single congenital cerebral cyst	Occurrence	True	Congenital	Inferred relationship	Some	1
Poly Y syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Testosterone 17-beta-dehydrogenase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Homologous chimera	Occurrence	True	Congenital	Inferred relationship	Some	1
14q partial proximal trisomy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Anomaly of chromosome pair 6	Occurrence	True	Congenital	Inferred relationship	Some	1
Deletion of long arm of chromosome 18	Occurrence	True	Congenital	Inferred relationship	Some	1
Ring chromosome 11 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Cholesterol monooxygenase (side-chain cleaving) deficiency	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital facial nerve palsy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy 18 in Edward's syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital end-plate acetylcholinesterase deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
XXXXY syndrome	Occurrence	False	Congenital	Inferred relationship	Some	1
XX males	Occurrence	False	Congenital	Inferred relationship	Some	1
14q partial trisomy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Triploidy and polyploidy	Occurrence	True	Congenital	Inferred relationship	Some	1
1q partial monosomy	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital aplasia of scrotum	Occurrence	False	Congenital	Inferred relationship	Some	2
Ring chromosome 4 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Anomaly of chromosome pair 21	Occurrence	True	Congenital	Inferred relationship	Some	1
Monosomy and deletion from autosome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital receptive dysphasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Anomaly of chromosome pair 8	Occurrence	True	Congenital	Inferred relationship	Some	1
Atresia and stenosis of aorta	Occurrence	False	Congenital	Inferred relationship	Some	4
Chromosome 16p11.2 deletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Pseudotrisomy 18	Occurrence	True	Congenital	Inferred relationship	Some	1
17q partial trisomy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Trisomy 7	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft uvula (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
46, XX true hermaphrodite	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital chromosomal disease	Occurrence	True	Congenital	Inferred relationship	Some	1
12q partial trisomy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
18q partial trisomy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital heart block	Occurrence	False	Congenital	Inferred relationship	Some	2
tappmonokromasi	Occurrence	False	Congenital	Inferred relationship	Some	1
Congenital elephantiasis	Occurrence	False	Congenital	Inferred relationship	Some	2
Duplication with other complex rearrangement	Occurrence	True	Congenital	Inferred relationship	Some	1
19q partial trisomy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Complete trisomy 8 syndrome	Occurrence	False	Congenital	Inferred relationship	Some	1
Anomaly of chromosome pair 12	Occurrence	True	Congenital	Inferred relationship	Some	1
partiellt monosomi 16q-syndrom	Occurrence	False	Congenital	Inferred relationship	Some	2
Penta X syndrome	Occurrence	False	Congenital	Inferred relationship	Some	1
XY, female phenotype	Occurrence	True	Congenital	Inferred relationship	Some	1
Bifid thumb	Occurrence	False	Congenital	Inferred relationship	Some	2
Ring chromosome 22 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Trisomy 6	Occurrence	True	Congenital	Inferred relationship	Some	1
Isologous chimera	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital arteriovenous fistula stenosis	Occurrence	False	Congenital	Inferred relationship	Some	3
3 beta-Hydroxysteroid dehydrogenase deficiency	Occurrence	False	Congenital	Inferred relationship	Some	2
Partial trisomy 21 in Down's syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
8p partial monosomy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
partiellt trisomi 16q-syndrom	Occurrence	False	Congenital	Inferred relationship	Some	1
Congenital adrenal hyperplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital adhesions of peritoneum	Occurrence	False	Congenital	Inferred relationship	Some	2
Deficiency of steroid 17-alpha-monooxygenase	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital tricuspid atresia and stenosis	Occurrence	False	Congenital	Inferred relationship	Some	4
2q partial trisomy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital abnormality of great veins and coronary sinus	Occurrence	False	Congenital	Inferred relationship	Some	3
Karyotype 46, X iso (Xq)	Occurrence	False	Congenital	Inferred relationship	Some	1
Male with sex chromosome mosaicism	Occurrence	True	Congenital	Inferred relationship	Some	1
Turner's phenotype, partial X deletion karyotype	Occurrence	False	Congenital	Inferred relationship	Some	1
17p partial trisomy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Deficiency of steroid 11-beta-monooxygenase	Occurrence	True	Congenital	Inferred relationship	Some	1
4p partial monosomy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Achromatopsia	Occurrence	True	Congenital	Inferred relationship	Some	1
Trisomy 18 - mitotic nondisjunction mosaicism	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral congenital dislocation of hip	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital arteriovenous fistula of brain	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital coronary artery fistula to left atrium	Occurrence	False	Congenital	Inferred relationship	Some	3
Anomaly of chromosome pair 19	Occurrence	True	Congenital	Inferred relationship	Some	1
Coronary sinus drainage cephalad to left superior vena cava (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
22q11.2 duplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Colloid cyst of third ventricle	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital coronary aneurysm	Occurrence	False	Congenital	Inferred relationship	Some	2
Trisomy 22	Occurrence	True	Congenital	Inferred relationship	Some	1
4p partial trisomy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Marshall syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3

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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)