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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
Radioulnar synostosis with microcephaly and scoliosis syndrome Occurrence True Congenital Inferred relationship Some 1
Radioulnar synostosis with microcephaly and scoliosis syndrome Occurrence True Congenital Inferred relationship Some 2
Fetus with radiation damage NOS Occurrence False Congenital Inferred relationship Some
Cleft soft palate with right cleft lip Occurrence True Congenital Inferred relationship Some 1
Fetus with damage due to intrauterine contraceptive device unspecified Occurrence False Congenital Inferred relationship Some
Overgrowth, macrocephaly, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
Hypomandibular faciocranial dysostosis Occurrence True Congenital Inferred relationship Some 1
Lumbar spina bifida with hydrocephalus Occurrence True Congenital Inferred relationship Some 4
Dysspondyloenchondromatosis Occurrence True Congenital Inferred relationship Some 1
Fetus with damage due to intrauterine contraceptive device NOS Occurrence False Congenital Inferred relationship Some
Anomalous pulmonary venous drainage to hepatic veins Occurrence True Congenital Inferred relationship Some 2
Transient mitral regurgitation of newborn Occurrence False Congenital Inferred relationship Some 1
Juvenile idiopathic generalised osteoporosis Occurrence False Congenital Inferred relationship Some 1
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome Occurrence True Congenital Inferred relationship Some 1
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome Occurrence True Congenital Inferred relationship Some 2
Persistent thyroglossal duct Occurrence True Congenital Inferred relationship Some 1
Nager syndrome Occurrence True Congenital Inferred relationship Some 1
Hypoplastic tibia and postaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Female pseudohermaphroditism Occurrence False Congenital Inferred relationship Some 2
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome Occurrence True Congenital Inferred relationship Some 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome Occurrence True Congenital Inferred relationship Some 1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome Occurrence True Congenital Inferred relationship Some 2
Encephalocele of orbit Occurrence True Congenital Inferred relationship Some 1
Pontocerebellar hypoplasia type 6 Occurrence True Congenital Inferred relationship Some 1
Generalised macrodontia Occurrence False Congenital Inferred relationship Some 1
Beals auriculo-osteodysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Omphalomesenteric duct cyst Occurrence True Congenital Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia Irapa type Occurrence True Congenital Inferred relationship Some 1
Muscle-eye-brain disease, congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of centrum of sacral vertebra Occurrence True Congenital Inferred relationship Some 1
Ossification anomaly with psychomotor developmental delay syndrome Occurrence True Congenital Inferred relationship Some 2
Ossification anomaly with psychomotor developmental delay syndrome Occurrence True Congenital Inferred relationship Some 1
Persistent aortic arch convolutions Occurrence True Congenital Inferred relationship Some 1
Boder syndrome Occurrence True Congenital Inferred relationship Some 1
Basan syndrome Occurrence True Congenital Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 1 Occurrence True Congenital Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 1 Occurrence True Congenital Inferred relationship Some 3
Camptodactyly syndrome Guadalajara type 1 Occurrence True Congenital Inferred relationship Some 2
Cervical spinal hydromeningocele Occurrence False Congenital Inferred relationship Some 3
Cervical spinal hydromeningocele Occurrence False Congenital Inferred relationship Some 1
Multinodular goitre, cystic kidney, polydactyly syndrome Occurrence True Congenital Inferred relationship Some 2
Multinodular goitre, cystic kidney, polydactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Multinodular goitre, cystic kidney, polydactyly syndrome Occurrence True Congenital Inferred relationship Some 3
Interrupted aortic arch between left common carotid and brachiocephalic artery Occurrence True Congenital Inferred relationship Some 1
Abnormal communication between pericardial sac and peritoneal cavity Occurrence True Congenital Inferred relationship Some 1
Czech dysplasia metatarsal type Occurrence True Congenital Inferred relationship Some 1
Multirooted tooth with divergent roots Occurrence False Congenital Inferred relationship Some 1
Absent tibia, polydactyly, arachnoid cyst syndrome Occurrence True Congenital Inferred relationship Some 2
Absent tibia, polydactyly, arachnoid cyst syndrome Occurrence True Congenital Inferred relationship Some 1
Pseudo-Hurler polydystrophy Occurrence True Congenital Inferred relationship Some 1
Rachischisis with hydrocephalus Occurrence True Congenital Inferred relationship Some 4
Rachischisis with hydrocephalus Occurrence True Congenital Inferred relationship Some 1
Rachischisis with hydrocephalus Occurrence True Congenital Inferred relationship Some 3
Branchioskeletogenital syndrome Occurrence True Congenital Inferred relationship Some 1
Branchioskeletogenital syndrome Occurrence True Congenital Inferred relationship Some 2
Capillary-venous-lymphatic malformation Occurrence True Congenital Inferred relationship Some 1
Capillary-venous-lymphatic malformation Occurrence True Congenital Inferred relationship Some 2
Supernumerary cusp Occurrence False Congenital Inferred relationship Some 1
Aplasia of muscle Occurrence True Congenital Inferred relationship Some 1
Right ventricular outflow tract obstruction due to common atrioventricular valve Occurrence False Congenital Inferred relationship Some 1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome Occurrence True Congenital Inferred relationship Some 2
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome Occurrence True Congenital Inferred relationship Some 3
Ectodermal dysplasia, syndactyly and pili torti Occurrence True Congenital Inferred relationship Some 1
Anodontia of permanent dentition Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of tibia Occurrence True Congenital Inferred relationship Some 1
Hypogonadism with prune belly syndrome Occurrence True Congenital Inferred relationship Some 3
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Occurrence True Congenital Inferred relationship Some 2
Spondyloepimetaphyseal disorder Occurrence True Congenital Inferred relationship Some 1
Kallman syndrome with heart disease Occurrence True Congenital Inferred relationship Some 3
Spina bifida Occurrence True Congenital Inferred relationship Some 1
Congenital horizontal mandibular hypoplasia Occurrence True Congenital Inferred relationship Some 1
Muscular ventricular septal defect in central trabecular septum Occurrence True Congenital Inferred relationship Some 1
Cerebro-facio-thoracic dysplasia Occurrence True Congenital Inferred relationship Some 1
Cerebro-facio-thoracic dysplasia Occurrence True Congenital Inferred relationship Some 2
Polyorchism Occurrence True Congenital Inferred relationship Some 1
Spondyloenchondrodysplasia with immune dysregulation Occurrence True Congenital Inferred relationship Some 1
Double kidney Occurrence True Congenital Inferred relationship Some 1
Progressive junctional epidermolysis bullosa (neurotrophic) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Multiple neurofibromas in neurofibromatosis Occurrence True Congenital Inferred relationship Some 2
Multiple neurofibromas in neurofibromatosis Occurrence True Congenital Inferred relationship Some 1
Diffuse hypoplasia of right ventricle Occurrence True Congenital Inferred relationship Some 1
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome Occurrence True Congenital Inferred relationship Some 1
Amelogenesis imperfecta, pigmented hypomaturation type Occurrence True Congenital Inferred relationship Some 1
Low assimilation pelvis Occurrence True Congenital Inferred relationship Some 1
Johnson neuroectodermal syndrome Occurrence True Congenital Inferred relationship Some 1
Tibial aplasia and ectrodactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Atrial septal defect, atrioventricular conduction defect syndrome Occurrence True Congenital Inferred relationship Some 1
Enamel-renal syndrome Occurrence False Congenital Inferred relationship Some 1
Rud's syndrome Occurrence True Congenital Inferred relationship Some 1
Bent bone dysplasia Occurrence False Congenital Inferred relationship Some 1
Fibrochondrogenesis Occurrence True Congenital Inferred relationship Some 1
Ectopic glial tissue Occurrence True Congenital Inferred relationship Some 1
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome Occurrence True Congenital Inferred relationship Some 2
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome Occurrence True Congenital Inferred relationship Some 1
Peutz-Jeghers syndrome Occurrence True Congenital Inferred relationship Some 3
Hypodontia and nail dysgenesis Occurrence True Congenital Inferred relationship Some 3
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 Occurrence False Congenital Inferred relationship Some 1
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 Occurrence False Congenital Inferred relationship Some 3

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Reference Sets

Qualifier value foundation reference set

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