255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\Fetal and/or neonatal period\Congenital

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital	Is a	Fetal and/or neonatal period	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Multiple malformation syndrome due to non-infectious environmental agents	Occurrence	True	Congenital	Inferred relationship	Some	1
Thalassaemia	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital abnormality of ventricles and ventricular septum	Occurrence	True	Congenital	Inferred relationship	Some	1
Cyanotic congenital heart disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Common atrioventricular junction (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Bicuspid aortic valve	Occurrence	True	Congenital	Inferred relationship	Some	1
Patent foramen ovale	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital stenosis of aortic valve	Occurrence	True	Congenital	Inferred relationship	Some	1
Neurofibromatosis type 2	Occurrence	True	Congenital	Inferred relationship	Some	1
Neurofibromatosis type 2	Occurrence	True	Congenital	Inferred relationship	Some	2
Tongue tie	Occurrence	True	Congenital	Inferred relationship	Some	1
Alpha trait thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	1
Radial polydactyly	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cataract	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital arteriovenous malformation	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital genu varum	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital heart disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital spondylolysis of lumbosacral region	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital deformity of foot	Occurrence	True	Congenital	Inferred relationship	Some	1
Preauricular fistula	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary hemoglobin S (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft palate (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Corrected transposition of great vessels	Occurrence	True	Congenital	Inferred relationship	Some	1
Corrected transposition of great vessels	Occurrence	True	Congenital	Inferred relationship	Some	2
Penile hypospadias (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Penile hypospadias (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Angio-osteohypertrophic syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Angio-osteohypertrophic syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Angio-osteohypertrophic syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital iodine deficiency syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Abnormal ventriculoarterial connection	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital subluxation of left hip joint	Occurrence	True	Congenital	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Inherited disorder of bilirubin metabolism	Occurrence	True	Congenital	Inferred relationship	Some	1
Turner syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Classical phenylketonuria	Occurrence	True	Congenital	Inferred relationship	Some	1
Peripheral arteriovenous malformation	Occurrence	True	Congenital	Inferred relationship	Some	1
Peripheral arteriovenous malformation	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital malformation of genital organs	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital capsular cataract	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of eye	Occurrence	True	Congenital	Inferred relationship	Some	1
Alpha thalassemia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Undescended left testicle	Occurrence	True	Congenital	Inferred relationship	Some	1
Neurofibromatosis syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Neurofibromatosis syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital hearing disorder	Occurrence	True	Congenital	Inferred relationship	Some	1
Generalized congenital intestinal dysmotility (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Osteogenesis imperfecta	Occurrence	True	Congenital	Inferred relationship	Some	1
Embryonic cyst of broad ligament	Occurrence	True	Congenital	Inferred relationship	Some	1
Heterozygous hemoglobinopathy	Occurrence	True	Congenital	Inferred relationship	Some	1
Redundant prepuce	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of skin (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Sickle cell-hemoglobin SS disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of esophagus	Occurrence	True	Congenital	Inferred relationship	Some	1
Atrioventricular septal defect: atrial and ventricular components	Occurrence	True	Congenital	Inferred relationship	Some	1
Atrioventricular septal defect: atrial and ventricular components	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital vascular malformation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Dysmorphism	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital omphalocele	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital omphalocele	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital cystic kidney disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Osler hemorrhagic telangiectasia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Osler hemorrhagic telangiectasia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital stenosis of neck of urinary bladder	Occurrence	True	Congenital	Inferred relationship	Some	1
Undescended right testicle	Occurrence	True	Congenital	Inferred relationship	Some	1
Beta thalassaemia trait	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of spine	Occurrence	True	Congenital	Inferred relationship	Some	1
Craniosynostosis syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Chiari malformation	Occurrence	True	Congenital	Inferred relationship	Some	1
Sickling disorder due to hemoglobin S (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hemoglobin SS disease with crisis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Homozygous beta thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	1
Tetralogy of Fallot	Occurrence	True	Congenital	Inferred relationship	Some	1
Tetralogy of Fallot	Occurrence	True	Congenital	Inferred relationship	Some	2
Tetralogy of Fallot	Occurrence	True	Congenital	Inferred relationship	Some	3
Tetralogy of Fallot	Occurrence	True	Congenital	Inferred relationship	Some	4
Congenital cystic disease of liver	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Occurrence	True	Congenital	Inferred relationship	Some	1
Undescended testes - bilateral	Occurrence	True	Congenital	Inferred relationship	Some	1
Undescended testes - bilateral	Occurrence	True	Congenital	Inferred relationship	Some	2
Klippel Trenaunay syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Klippel Trenaunay syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital genu valgum	Occurrence	True	Congenital	Inferred relationship	Some	1
Trisomy and partial trisomy of autosome	Occurrence	True	Congenital	Inferred relationship	Some	1
Alpha-1-antitrypsin deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital pectus excavatum (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital pectus excavatum (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital malformation syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Darier disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Spina bifida aperta	Occurrence	True	Congenital	Inferred relationship	Some	1
Spina bifida aperta	Occurrence	True	Congenital	Inferred relationship	Some	2
Familial lipoprotein deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hydrocele	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft palate with cleft lip	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft palate with cleft lip	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital anomaly of peripheral blood vessel (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Epiblepharon	Occurrence	True	Congenital	Inferred relationship	Some	1
Primary hyperoxaluria	Occurrence	True	Congenital	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Occurrence	True	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)	IPS terminology module (core metadata concept)
380599019	Congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
646433016	Congenital (qualifier value)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)