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255399007: Congenital (qualifier value)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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)


0 descendants.

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
Dysosteosclerosis Occurrence True Congenital Inferred relationship Some 1
Microspherophakia (disorder) Occurrence True Congenital Inferred relationship Some 1
Microspherophakia (disorder) Occurrence True Congenital Inferred relationship Some 2
Dumbbell ossification of centrum of thoracic vertebra Occurrence True Congenital Inferred relationship Some 1
Limb mammary syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Limb mammary syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Limb mammary syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Thoracoschisis Occurrence True Congenital Inferred relationship Some 1
Ectopic ureterocele Occurrence False Congenital Inferred relationship Some 2
Vascular malformation of inner ear Occurrence True Congenital Inferred relationship Some 1
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Aniridia and absent patella syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Choledochocele (disorder) Occurrence True Congenital Inferred relationship Some 1
Hemifacial microsomia Occurrence True Congenital Inferred relationship Some 1
Craniopagus parietalis Occurrence True Congenital Inferred relationship Some 1
Juberg Hayward syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Juberg Hayward syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Patent ductus arteriosus Occurrence True Congenital Inferred relationship Some 1
Doughnut lesion of calvaria and bone fragility syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Doughnut lesion of calvaria and bone fragility syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital tricuspid atresia and stenosis Occurrence True Congenital Inferred relationship Some 1
Muscular ventricular septal defect in outlet septum Occurrence True Congenital Inferred relationship Some 1
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Endocrine-cerebro-osteodysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Endocrine-cerebro-osteodysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Endocrine-cerebro-osteodysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Mirror imaged atria Occurrence True Congenital Inferred relationship Some 1
Congenital esophagotracheal fistula Occurrence True Congenital Inferred relationship Some 1
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome Occurrence True Congenital Inferred relationship Some 1
Parietal encephalocele Occurrence True Congenital Inferred relationship Some 2
Joubert syndrome with renal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of great veins and coronary sinus Occurrence True Congenital Inferred relationship Some 1
Patent ductus arteriosus with left-to-right shunt Occurrence True Congenital Inferred relationship Some 1
Isolation of brachiocephalic trunk Occurrence True Congenital Inferred relationship Some 1
Glossopalatine ankylosis (disorder) Occurrence False Congenital Inferred relationship Some 2
Glossopalatine ankylosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Glossopalatine ankylosis (disorder) Occurrence True Congenital Inferred relationship Some 3
Inferior vena cava connecting to right atrium and left atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
brakymetapodi hos första metatarsalbenet Occurrence False Congenital Inferred relationship Some 1
Abnormal plantar creases Occurrence True Congenital Inferred relationship Some 1
Pseudodiastrophic dysplasia Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia with tooth-nail defects Occurrence True Congenital Inferred relationship Some 1
Ehlers-Danlos syndrome musculocontractural type (disorder) Occurrence True Congenital Inferred relationship Some 3
Ehlers-Danlos syndrome musculocontractural type (disorder) Occurrence True Congenital Inferred relationship Some 1
Ehlers-Danlos syndrome musculocontractural type (disorder) Occurrence True Congenital Inferred relationship Some 2
Radial polydactyly Wassel 2 Occurrence False Congenital Inferred relationship Some 1
X-linked mandibulofacial dysostosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Solid rudimentary uterus Occurrence True Congenital Inferred relationship Some 1
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital urethrorectal fistula Occurrence True Congenital Inferred relationship Some 1
Lumbar myelocystocele Occurrence True Congenital Inferred relationship Some 2
Incomplete ossification of carpal bone Occurrence True Congenital Inferred relationship Some 1
Atrial septal defect through coronary sinus orifice Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Generalised recessive dystrophic epidermolysis bullosa mitis Occurrence True Congenital Inferred relationship Some 1
Localized congenital cutis laxa (disorder) Occurrence True Congenital Inferred relationship Some 1
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
hornhinnefragilitet, keratoglobus, blå senhinna och ledöverrörlighet Occurrence False Congenital Inferred relationship Some 1
Ehlers-Danlos and osteogenesis imperfecta syndrome Occurrence True Congenital Inferred relationship Some 2
Ehlers-Danlos and osteogenesis imperfecta syndrome Occurrence True Congenital Inferred relationship Some 1
Syndactyly of toes with fusion of bones Occurrence True Congenital Inferred relationship Some 1
Torsion of accessory fallopian tube Occurrence True Congenital Inferred relationship Some 1
Hypochondrogenesis Occurrence True Congenital Inferred relationship Some 1
Microblepharia Occurrence True Congenital Inferred relationship Some 1
Trichorhinophalangeal dysplasia type I Occurrence True Congenital Inferred relationship Some 1
Generalized epidermolysis bullosa simplex Occurrence True Congenital Inferred relationship Some 1
Infantile GM1 gangliosidosis Occurrence True Congenital Inferred relationship Some 1
Galloway Mowat syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Right ventricular outflow tract obstruction due to prolapse of Eustachian valve (disorder) Occurrence False Congenital Inferred relationship Some 1
Acrofacial dysostosis Rodriguez type (disorder) Occurrence True Congenital Inferred relationship Some 1
Acrofacial dysostosis Rodriguez type (disorder) Occurrence True Congenital Inferred relationship Some 2
Cutis laxa, recessive, type I Occurrence True Congenital Inferred relationship Some 1
Congenital malformation of blood vessel of orbit proper (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital absence, atresia and stenosis of small intestine Occurrence True Congenital Inferred relationship Some 1
Congenital absence, atresia and stenosis of small intestine Occurrence True Congenital Inferred relationship Some 2
Congenital abnormality of right atrioventricular valve leaflet in double inlet ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Long narrow head Occurrence True Congenital Inferred relationship Some 1
Ptosis, strabismus, ectopic pupil syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
skelettdysplasi, typ Azouz Occurrence False Congenital Inferred relationship Some 1
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Double uterus, hemivagina, renal agenesis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Hydromicrocephaly Occurrence True Congenital Inferred relationship Some 1
Epilepsy telangiectasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Epilepsy telangiectasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Epilepsy telangiectasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Epilepsy telangiectasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Osteosclerosis - Stanescu type Occurrence True Congenital Inferred relationship Some 1
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1

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