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
Marshall syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital dislocation of hip	Occurrence	False	Congenital	Inferred relationship	Some	2
Pulmonary trunk atresia	Occurrence	False	Congenital	Inferred relationship	Some	2
Jervell and Lange-Nielsen syndrome	Occurrence	False	Congenital	Inferred relationship	Some	4
Congenital arteriovenous fistula	Occurrence	False	Congenital	Inferred relationship	Some	2
Mosaicism - lines with various numbers of X chromosomes	Occurrence	True	Congenital	Inferred relationship	Some	1
21q partial distal trisomy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Deletion with complex rearrangement (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital coronary artery fistula to pulmonary artery (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Radiation chimera	Occurrence	True	Congenital	Inferred relationship	Some	1
Klinefelter's syndrome, XXY (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
7p partial trisomy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital conduction defect (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Heterologous chimera	Occurrence	True	Congenital	Inferred relationship	Some	1
Male with structurally abnormal sex chromosome	Occurrence	True	Congenital	Inferred relationship	Some	1
Turner's phenotype - ring chromosome karyotype	Occurrence	False	Congenital	Inferred relationship	Some	1
True congenital varicose veins	Occurrence	False	Congenital	Inferred relationship	Some	2
True congenital varicose veins	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital dilation of ascending aorta (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital axial myopia	Occurrence	True	Congenital	Inferred relationship	Some	1
Trisomy 21- meiotic nondisjunction	Occurrence	True	Congenital	Inferred relationship	Some	1
Complete trisomy 16 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital coronary artery fistula to right atrium	Occurrence	False	Congenital	Inferred relationship	Some	3
Trisomy 18 - meiotic nondisjunction	Occurrence	True	Congenital	Inferred relationship	Some	1
Tritan defect	Occurrence	True	Congenital	Inferred relationship	Some	1
Atresia of larynx and trachea	Occurrence	False	Congenital	Inferred relationship	Some	3
Commissural fusion of truncal valve (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Atresia of pulmonary trunk with absent left pulmonary artery (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Atresia of pulmonary trunk with absent left pulmonary artery (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Klinefelter's syndrome XXXY	Occurrence	False	Congenital	Inferred relationship	Some	1
Congenital billowing of mitral valve leaflet (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Klinefelter's syndrome XXXXY	Occurrence	False	Congenital	Inferred relationship	Some	1
18q partial monosomy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital atresia of right coronary artery orifice (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypoplastic mitral papillary muscle	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital arteriovenous fistula of kidney	Occurrence	False	Congenital	Inferred relationship	Some	2
Steroid 21-monooxygenase deficiency, salt wasting type	Occurrence	False	Congenital	Inferred relationship	Some	3
Chimera	Occurrence	True	Congenital	Inferred relationship	Some	1
Anomalous separate origins of internal carotid arteries and external carotid arteries from single aortic arch (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital coronary sinus stenosis	Occurrence	False	Congenital	Inferred relationship	Some	2
Incomplete bilateral cleft palate	Occurrence	False	Congenital	Inferred relationship	Some	4
Congenital color blindness	Occurrence	True	Congenital	Inferred relationship	Some	1
Deletion of long arm of chromosome 13	Occurrence	True	Congenital	Inferred relationship	Some	1
Kohlschutter's syndrome	Occurrence	False	Congenital	Inferred relationship	Some	5
Complete bilateral cleft palate	Occurrence	True	Congenital	Inferred relationship	Some	4
Mosaic XO/XX	Occurrence	True	Congenital	Inferred relationship	Some	1
partiellt trisomi 1q-syndrom	Occurrence	False	Congenital	Inferred relationship	Some	1
7q partial trisomy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital arteriovenous fistula rupture	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital cutaneous angiomatosis	Occurrence	True	Congenital	Inferred relationship	Some	2
Late onset congenital adrenal hyperplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Whole chromosome trisomy, mosaicism	Occurrence	True	Congenital	Inferred relationship	Some	1
Incomplete cleft hard and soft palate	Occurrence	False	Congenital	Inferred relationship	Some	3
8q partial monosomy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Byzanthine arch palate	Occurrence	False	Congenital	Inferred relationship	Some	4
Anomaly of chromosome X	Occurrence	False	Congenital	Inferred relationship	Some	1
Sex phenotype-karyotype dissociation syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
FRAXA	Occurrence	False	Congenital	Inferred relationship	Some	1
Amegakaryocytic thrombocytopenia with congenital malformation	Occurrence	True	Congenital	Inferred relationship	Some	1
Anomaly of chromosome pair 22	Occurrence	True	Congenital	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Occurrence	False	Congenital	Inferred relationship	Some	3
11q partial trisomy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Anomaly of chromosome pair 7	Occurrence	True	Congenital	Inferred relationship	Some	1
Ring chromosome 18 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Additional sex chromosome	Occurrence	False	Congenital	Inferred relationship	Some	1
Cleft hard palate, central	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital aneurysm of sinus of Valsalva	Occurrence	False	Congenital	Inferred relationship	Some	2
6q partial trisomy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Sex chromosome mosaicism (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cardiomegaly	Occurrence	False	Congenital	Inferred relationship	Some	2
1p partial monosomy	Occurrence	True	Congenital	Inferred relationship	Some	1
4q partial trisomy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital disorder of facial nerve	Occurrence	True	Congenital	Inferred relationship	Some	1
Chimera 46, XX; 46, XY (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anteversion of femur	Occurrence	False	Congenital	Inferred relationship	Some	3
Whole chromosome monosomy - meiotic nondisjunction (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
7p partial monosomy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Minor partial trisomy	Occurrence	True	Congenital	Inferred relationship	Some	1
Chromosomal alterations of group F	Occurrence	True	Congenital	Inferred relationship	Some	1
Double Y syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
XXXY syndrome	Occurrence	False	Congenital	Inferred relationship	Some	1
café-au-lait-fläckar och ringkromosom 11	Occurrence	False	Congenital	Inferred relationship	Some	1
Multiple congenital cerebral cysts	Occurrence	True	Congenital	Inferred relationship	Some	1
Deletion seen only at prometaphase	Occurrence	True	Congenital	Inferred relationship	Some	1
Trisomy 21- mitotic nondisjunction mosaicism	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital expressive dysphasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Protan defect	Occurrence	True	Congenital	Inferred relationship	Some	1
Anomaly of chromosome pair 11 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
11p partial trisomy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Schinzel-Giedion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital cerebral cyst	Occurrence	True	Congenital	Inferred relationship	Some	1
Trisomy 11	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital dilatation of colon	Occurrence	False	Congenital	Inferred relationship	Some	2
Complete monosomy 21 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Fragile X chromosome	Occurrence	False	Congenital	Inferred relationship	Some	1
Congenital dysphasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Persistent left posterior cardinal vein	Occurrence	False	Congenital	Inferred relationship	Some	4
Chromosomal alterations of group C and X	Occurrence	True	Congenital	Inferred relationship	Some	1
Anomaly of chromosome pair 4	Occurrence	True	Congenital	Inferred relationship	Some	1
Trisomy 9	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital coronary artery fistula	Occurrence	False	Congenital	Inferred relationship	Some	2

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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)