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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
Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypomandibular faciocranial dysostosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Lumbar spina bifida with hydrocephalus Occurrence True Congenital Inferred relationship Some 4
Dysspondyloenchondromatosis (disorder) Occurrence True Congenital Inferred relationship Some 1
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 generalized osteoporosis Occurrence False Congenital Inferred relationship Some 1
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder) 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
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Female pseudohermaphroditism Occurrence False Congenital Inferred relationship Some 2
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Encephalocele of orbit Occurrence True Congenital Inferred relationship Some 1
Congenital pontocerebellar hypoplasia type 6 (disorder) Occurrence True Congenital Inferred relationship Some 1
Generalized 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 (disorder) 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 (disorder) Occurrence True Congenital Inferred relationship Some 2
Ossification anomaly with psychomotor developmental delay syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Persistent aortic arch convolutions Occurrence True Congenital Inferred relationship Some 1
Odontoma dysphagia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Basan syndrome Occurrence True Congenital Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 1 (disorder) Occurrence True Congenital Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 1 (disorder) Occurrence True Congenital Inferred relationship Some 3
Camptodactyly syndrome Guadalajara type 1 (disorder) Occurrence True Congenital Inferred relationship Some 2
cervikalt spinalt hydromeningocele Occurrence False Congenital Inferred relationship Some 3
cervikalt spinalt hydromeningocele Occurrence False Congenital Inferred relationship Some 1
Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) 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 (disorder) 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 (disorder) Occurrence True Congenital Inferred relationship Some 2
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Pseudo-Hurler polydystrophy Occurrence True Congenital Inferred relationship Some 1
Rachischisis with hydrocephalus Occurrence False 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
BSG syndrome Occurrence True Congenital Inferred relationship Some 1
BSG 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
övertalig kusp 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 (disorder) Occurrence False Congenital Inferred relationship Some 1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) 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 (disorder) Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Spondyloepimetaphyseal disorder Occurrence True Congenital Inferred relationship Some 1
Kallman syndrome with heart disease (disorder) 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 (disorder) Occurrence True Congenital Inferred relationship Some 1
Cerebro-facio-thoracic dysplasia (disorder) 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 (disorder) Occurrence True Congenital Inferred relationship Some 2
Multiple neurofibromas in neurofibromatosis (disorder) 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 (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) 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 (disorder) Occurrence True Congenital Inferred relationship Some 1
Tibial aplasia and ectrodactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Atrial septal defect, atrioventricular conduction defect syndrome (disorder) 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
dysplasi karakteriserad av böjning av skelettben 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 (disorder) Occurrence True Congenital Inferred relationship Some 2
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) 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
parodontit samtidigt med Ehlers-Danlos syndrom typ 4 Occurrence False Congenital Inferred relationship Some 1
parodontit samtidigt med Ehlers-Danlos syndrom typ 4 Occurrence False Congenital Inferred relationship Some 3
Nasopalpebral lipoma coloboma syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
cervikala, vaginala och externa anomalier i kvinnliga könsorgan Occurrence True Congenital Inferred relationship Some 1
Myeloschisis Occurrence True Congenital Inferred relationship Some 1
Frontofacionasal dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Ulna fibula ray defect and brachydactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Ulna fibula ray defect and brachydactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1

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