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255399007: Congenital (qualifier value)


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

Descriptions:

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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group
Bilateral incomplete cleft lip and bilateral incomplete cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Multiple congenital cardiac defects Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Incomplete bilateral cleft palate Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital sensorineural hearing loss Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Incomplete cleft palate Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cystic testicular dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Aortic orifice left side by side with respect to pulmonary orifice Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Reunion Island Larsen-like syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Reunion Island Larsen-like syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Reunion Island Larsen-like syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Inferior vena cava connecting to morphological left atrium Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Retroesophageal pulmonary artery Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Aortic orifice anterior left with respect to pulmonary orifice Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Stomach in central position Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Aortic orifice posterior with respect to pulmonary orifice Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Developmental displacement of brachial plexus Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Aortic orifice anterior right with respect to pulmonary orifice Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Aortic orifice right side by side with respect to pulmonary orifice Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intrahepatic gallbladder Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Aortic orifice posterior left with respect to pulmonary orifice Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Aortic orifice anterior with respect to pulmonary orifice Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Right-sided pulmonary arterial trunk Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Juxtaposed atrial appendage Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Malalignment of aortic sinus in relation to pulmonary sinus Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Combined oxidative phosphorylation defect type 11 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mixed sclerosing bone dystrophy with extra-skeletal manifestation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Fetal spina bifida Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Fetal spina bifida Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Fetal hydrocephalus Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant spastic paraplegia type 13 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Hereditary hyperekplexia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Syndactyly, polydactyly, ear lobe syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Syndactyly, polydactyly, ear lobe syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Syndactyly, polydactyly, ear lobe syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Syndactyly, polydactyly, ear lobe syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Port-wine nevi, mega cisterna magna, hydrocephalus syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Port-wine nevi, mega cisterna magna, hydrocephalus syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Port-wine nevi, mega cisterna magna, hydrocephalus syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Paternal uniparental disomy of chromosome X Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X-linked spastic paraplegia type 16 Occurrence False Congenital Inferred relationship Existential restriction modifier 2
X-linked spastic paraplegia type 16 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Occurrence True Congenital Inferred relationship Existential restriction modifier 2
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant spastic paraplegia type 38 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant spastic paraplegia type 38 Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Conductive hearing loss, malformation of external ear syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Maternal uniparental disomy of chromosome X Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hirschsprung disease, ganglioneuroblastoma syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hirschsprung disease, ganglioneuroblastoma syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Heart defect, tongue hamartoma, polysyndactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Heart defect, tongue hamartoma, polysyndactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital supravalvular mitral stenosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive brachyolmia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive brachyolmia Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Congenital abnormal number of ostium of coronary artery Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Parachute malformation of tricuspid valve Occurrence True Congenital Inferred relationship Existential restriction modifier 1
External auditory canal atresia, vertical talus, hypertelorism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
External auditory canal atresia, vertical talus, hypertelorism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
External auditory canal atresia, vertical talus, hypertelorism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
External auditory canal atresia, vertical talus, hypertelorism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital absence of auricle with stenosis of auditory canal Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital absence of auricle with stenosis of auditory canal Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Tracheoesophageal fistula without atresia of esophagus Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Tracheoesophageal fistula without atresia of esophagus Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Platyspondylia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital aneurysm of precerebral artery Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive spastic paraplegia type 56 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Congenital stenosis of pulmonary artery Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive secondary polycythemia not associated with Von Hippel Lindau gene Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital aneurysm of cerebral artery Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital bronchial stenosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital thoracostenosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital supraglottic stenosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Bilateral multicystic renal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Spondylometaphyseal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Multicystic renal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Otopalatodigital syndrome spectrum disorder Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital vascular anomaly of upper eyelid Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital vascular anomaly of lower eyelid Occurrence True Congenital Inferred relationship Existential restriction modifier 1

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