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
Tuberous sclerosis syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Tuberous sclerosis syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Neurofibromatosis type 1	Occurrence	True	Congenital	Inferred relationship	Some	1
Neurofibromatosis type 1	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital anomaly of digestive tract	Occurrence	True	Congenital	Inferred relationship	Some	1
Phenylketonuria	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypospadias (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Complete trisomy 21 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital syphilis	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of face (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital dislocation of left hip (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spina bifida occulta	Occurrence	True	Congenital	Inferred relationship	Some	1
Spina bifida occulta	Occurrence	True	Congenital	Inferred relationship	Some	2
Undescended testicle	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital dislocation of hip	Occurrence	True	Congenital	Inferred relationship	Some	1
Coarctation of aorta	Occurrence	True	Congenital	Inferred relationship	Some	1
Port-wine stain of skin (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Medullary sponge kidney	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital Horner syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Double outlet right ventricle	Occurrence	True	Congenital	Inferred relationship	Some	1
Meckel's diverticulum	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anteversion of femur	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital dislocation of right hip (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of digestive system	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital pigmented melanocytic nevus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital ptosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Polyotia	Occurrence	True	Congenital	Inferred relationship	Some	1
Sex chromosome abnormality - female phenotype	Occurrence	True	Congenital	Inferred relationship	Some	1
Familial hypoalphalipoproteinemia	Occurrence	True	Congenital	Inferred relationship	Some	1
Agenesis of left kidney (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary factor IX deficiency disease	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital anomaly of mouth	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital stenosis of pulmonary valve	Occurrence	True	Congenital	Inferred relationship	Some	1
Inborn error of metabolism	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital malformation of upper alimentary tract	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft lip	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital disorder due to abnormality of chromosome number OR structure (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hemoglobin S sickling disorder with crisis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Chiari malformation type I	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital insufficiency of tricuspid valve	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital malformation	Occurrence	True	Congenital	Inferred relationship	Some	1
Spina bifida of lumbar region	Occurrence	True	Congenital	Inferred relationship	Some	1
Spina bifida of lumbar region	Occurrence	True	Congenital	Inferred relationship	Some	2
Cleft of hard palate (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital subluxation of right hip joint	Occurrence	True	Congenital	Inferred relationship	Some	1
Complete transposition of great vessels	Occurrence	True	Congenital	Inferred relationship	Some	1
Complete transposition of great vessels	Occurrence	True	Congenital	Inferred relationship	Some	2
Complete transposition of great vessels	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital deviation of nasal septum	Occurrence	True	Congenital	Inferred relationship	Some	1
Sickle cell trait	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant polycystic kidney disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Heterozygous thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	1
Infantile malignant osteopetrosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral cleft lip	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital microcephaly (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital atresia of pulmonary valve	Occurrence	True	Congenital	Inferred relationship	Some	1
Cerebral arteriovenous malformation	Occurrence	True	Congenital	Inferred relationship	Some	1
Anophthalmos	Occurrence	True	Congenital	Inferred relationship	Some	1
Abnormality of canalization and retrogressive differentiation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Abnormality of canalization and retrogressive differentiation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital hypertrophy of retinal pigment epithelium	Occurrence	True	Congenital	Inferred relationship	Some	1
Occult spinal dysraphism sequence	Occurrence	True	Congenital	Inferred relationship	Some	1
Occult spinal dysraphism sequence	Occurrence	True	Congenital	Inferred relationship	Some	2
Occult spinal dysraphism sequence	Occurrence	True	Congenital	Inferred relationship	Some	3
Right renal agenesis	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital infectious disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Spina bifida	Occurrence	True	Congenital	Inferred relationship	Some	1
Spina bifida	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital anomaly of nervous system	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital subaortic stenosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Beta thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	1
Floppy infant syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of skull	Occurrence	True	Congenital	Inferred relationship	Some	1
Malformation sequence	Occurrence	True	Congenital	Inferred relationship	Some	1
Lumbar spina bifida with hydrocephalus	Occurrence	True	Congenital	Inferred relationship	Some	1
Lumbar spina bifida with hydrocephalus	Occurrence	True	Congenital	Inferred relationship	Some	2
Lumbar spina bifida with hydrocephalus	Occurrence	True	Congenital	Inferred relationship	Some	3
Muscular ventricular septum defect	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital postural scoliosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Glanular hypospadias	Occurrence	True	Congenital	Inferred relationship	Some	1
Glanular hypospadias	Occurrence	True	Congenital	Inferred relationship	Some	2
Common ventricle	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of lip	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital nystagmus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Bicuspid cardiac valve	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital spondylolisthesis	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital nasolacrimal duct obstruction	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital torticollis	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of head	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary hemoglobinopathy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Patent ductus arteriosus	Occurrence	True	Congenital	Inferred relationship	Some	1
Orofacial cleft (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital obstruction of ureteropelvic junction	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft of soft palate	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft of soft palate	Occurrence	True	Congenital	Inferred relationship	Some	2
Perimembranous ventricular septal defect	Occurrence	True	Congenital	Inferred relationship	Some	1
Perimembranous ventricular septal defect	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Meningomyelocele (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Meningomyelocele (disorder)	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)