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255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Case insensitive SNOMED CT core
380599019 Congenita en Synonym Active Case insensitive SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Case insensitive SNOMED CT core

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
Acro-dermato-ungual-lacrimal-tooth syndrome Occurrence True Congenital Inferred relationship Some 3
Aniridia and absent patella syndrome Occurrence True Congenital Inferred relationship Some 1
Choledochocele 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 Occurrence True Congenital Inferred relationship Some 2
Juberg Hayward syndrome Occurrence True Congenital Inferred relationship Some 1
Patent ductus arteriosus Occurrence True Congenital Inferred relationship Some 1
Calvarial doughnut lesion with bone fragility syndrome Occurrence True Congenital Inferred relationship Some 1
Calvarial doughnut lesion with bone fragility syndrome 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 Occurrence True Congenital Inferred relationship Some 3
Endocrine-cerebro-osteodysplasia syndrome Occurrence True Congenital Inferred relationship Some 2
Endocrine-cerebro-osteodysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Endocrine-cerebro-osteodysplasia syndrome Occurrence True Congenital Inferred relationship Some 3
Mirror imaged atria Occurrence True Congenital Inferred relationship Some 1
Congenital oesophagotracheal fistula Occurrence True Congenital Inferred relationship Some 1
OSLAM syndrome Occurrence True Congenital Inferred relationship Some 1
Parietal encephalocele Occurrence True Congenital Inferred relationship Some 2
Joubert syndrome with renal defect 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 Occurrence False Congenital Inferred relationship Some 2
Glossopalatine ankylosis Occurrence True Congenital Inferred relationship Some 1
Glossopalatine ankylosis Occurrence True Congenital Inferred relationship Some 3
Inferior caval vein connecting to right atrium and left atrium Occurrence True Congenital Inferred relationship Some 1
Aplasia cutis congenita with intestinal lymphangiectasia syndrome Occurrence True Congenital Inferred relationship Some 1
Brachymetapodia of first metatarsal 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 Occurrence True Congenital Inferred relationship Some 3
Ehlers-Danlos syndrome musculocontractural type Occurrence True Congenital Inferred relationship Some 1
Ehlers-Danlos syndrome musculocontractural type Occurrence True Congenital Inferred relationship Some 2
Radial polydactyly Wassel 2 Occurrence False Congenital Inferred relationship Some 1
X-linked mandibulofacial dysostosis Occurrence True Congenital Inferred relationship Some 1
Solid rudimentary uterus Occurrence True Congenital Inferred relationship Some 1
Spondyloepiphyseal dysplasia Nishimura type Occurrence True Congenital Inferred relationship Some 4
Spondyloepiphyseal dysplasia Nishimura type Occurrence True Congenital Inferred relationship Some 3
Spondyloepiphyseal dysplasia Nishimura type 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 Occurrence True Congenital Inferred relationship Some 2
Intellectual disability, balding, patella luxation, acromicria syndrome Occurrence True Congenital Inferred relationship Some 3
Intellectual disability, balding, patella luxation, acromicria syndrome Occurrence True Congenital Inferred relationship Some 4
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Occurrence True Congenital Inferred relationship Some 1
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome Occurrence True Congenital Inferred relationship Some 1
Generalised recessive dystrophic epidermolysis bullosa mitis Occurrence True Congenital Inferred relationship Some 1
Localised congenital cutis laxa Occurrence True Congenital Inferred relationship Some 1
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Occurrence True Congenital Inferred relationship Some 1
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Occurrence True Congenital Inferred relationship Some 3
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Occurrence True Congenital Inferred relationship Some 2
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 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
Generalised epidermolysis bullosa simplex Occurrence True Congenital Inferred relationship Some 1
Infantile GM1 gangliosidosis Occurrence True Congenital Inferred relationship Some 1
Galloway Mowat syndrome Occurrence True Congenital Inferred relationship Some 1
Right ventricular outflow tract obstruction due to prolapse of Eustachian valve Occurrence False Congenital Inferred relationship Some 1
Acrofacial dysostosis Rodriguez type Occurrence True Congenital Inferred relationship Some 1
Acrofacial dysostosis Rodriguez type Occurrence True Congenital Inferred relationship Some 2
Cutis laxa, recessive, type I Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of blood vessel of orbit proper 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 Occurrence True Congenital Inferred relationship Some 1
Long narrow head Occurrence True Congenital Inferred relationship Some 1
Ptosis, strabismus, ectopic pupil syndrome Occurrence True Congenital Inferred relationship Some 1
Bone dysplasia Azouz type Occurrence False Congenital Inferred relationship Some 1
Richieri Costa Pereira syndrome Occurrence True Congenital Inferred relationship Some 1
Double uterus, hemivagina, renal agenesis syndrome Occurrence True Congenital Inferred relationship Some 1
Hydromicrocephaly Occurrence True Congenital Inferred relationship Some 1
Epilepsy telangiectasia syndrome Occurrence True Congenital Inferred relationship Some 2
Epilepsy telangiectasia syndrome Occurrence True Congenital Inferred relationship Some 3
Epilepsy telangiectasia syndrome Occurrence True Congenital Inferred relationship Some 1
Epilepsy telangiectasia syndrome 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 Occurrence True Congenital Inferred relationship Some 3
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome Occurrence True Congenital Inferred relationship Some 2
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome Occurrence True Congenital Inferred relationship Some 1
Mitral valve dysplasia Occurrence True Congenital Inferred relationship Some 1
Lipodystrophy, intellectual disability, deafness syndrome Occurrence True Congenital Inferred relationship Some 2
Lipodystrophy, intellectual disability, deafness syndrome Occurrence True Congenital Inferred relationship Some 1
Coloboma of macula with brachydactyly type B syndrome Occurrence True Congenital Inferred relationship Some 2
46,XX disorder of sex development with skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital short quadriceps Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of sternebra Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction due to anterolateral muscle band Occurrence False Congenital Inferred relationship Some 1
Microcephaly with cervical spine fusion anomaly Occurrence True Congenital Inferred relationship Some 1
Central core disease Occurrence True Congenital Inferred relationship Some 1
MEDNIK syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of vagina affecting pregnancy Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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