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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
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
554801000077113 congénital (valeur de l'attribut) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
congénital est un(e) (attribut) périodes de vie true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked intellectual disability due to GRIA3 mutations survenue (attribut) True congénital Inferred relationship Some 1
X-linked spastic paraplegia type 16 (disorder) survenue (attribut) False congénital Inferred relationship Some 2
X-linked spastic paraplegia type 16 (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) survenue (attribut) True congénital Inferred relationship Some 2
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome survenue (attribut) True congénital Inferred relationship Some 3
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome survenue (attribut) True congénital Inferred relationship Some 2
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome survenue (attribut) True congénital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 38 (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 38 (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency survenue (attribut) True congénital Inferred relationship Some 1
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency survenue (attribut) True congénital Inferred relationship Some 1
Conductive deafness, malformed external ear syndrome survenue (attribut) True congénital Inferred relationship Some 1
Maternal uniparental disomy of chromosome X (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
syndrome d'anomalie cardiaque, hamartome de la langue, polysyndactylie survenue (attribut) True congénital Inferred relationship Some 1
syndrome d'anomalie cardiaque, hamartome de la langue, polysyndactylie survenue (attribut) True congénital Inferred relationship Some 2
Congenital supravalvular mitral stenosis survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive brachyolmia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive brachyolmia (disorder) survenue (attribut) False congénital Inferred relationship Some 2
Congenital abnormal number of coronary ostia survenue (attribut) True congénital Inferred relationship Some 1
Parachute malformation of tricuspid valve survenue (attribut) True congénital Inferred relationship Some 1
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital absence of auricle with stenosis of auditory canal survenue (attribut) True congénital Inferred relationship Some 2
Congenital absence of auricle with stenosis of auditory canal survenue (attribut) True congénital Inferred relationship Some 1
Tracheo-esophageal fistula without atresia of esophagus survenue (attribut) True congénital Inferred relationship Some 1
Tracheo-esophageal fistula without atresia of esophagus survenue (attribut) True congénital Inferred relationship Some 2
Platyspondylia survenue (attribut) True congénital Inferred relationship Some 1
Congenital aneurysm of precerebral artery (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 56 (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Congenital stenosis of pulmonary artery (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive secondary polycythemia not associated with Von Hippel Lindau gene (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital aneurysm of cerebral artery (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital bronchial stenosis survenue (attribut) True congénital Inferred relationship Some 1
Congenital thoracostenosis survenue (attribut) True congénital Inferred relationship Some 1
Congenital supraglottic stenosis survenue (attribut) True congénital Inferred relationship Some 1
Bilateral multicystic renal dysplasia (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Spondylometaphyseal dysplasia survenue (attribut) True congénital Inferred relationship Some 1
Multicystic renal dysplasia survenue (attribut) True congénital Inferred relationship Some 2
Otopalatodigital syndrome spectrum disorder survenue (attribut) True congénital Inferred relationship Some 1
Congenital vascular anomaly of upper eyelid survenue (attribut) True congénital Inferred relationship Some 1
Congenital vascular anomaly of lower eyelid survenue (attribut) True congénital Inferred relationship Some 1
Chronic granulomatous disease (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Temporal encephalocele survenue (attribut) True congénital Inferred relationship Some 1
Lumbar meningomyelocele survenue (attribut) True congénital Inferred relationship Some 3
Lumbar meningomyelocele survenue (attribut) False congénital Inferred relationship Some 2
Lumbar meningomyelocele survenue (attribut) True congénital Inferred relationship Some 4
Parietal encephalocele survenue (attribut) True congénital Inferred relationship Some 1
méningocèle cérébrale congénitale (trouble) survenue (attribut) True congénital Inferred relationship Some 2
méningocèle cérébrale congénitale (trouble) survenue (attribut) True congénital Inferred relationship Some 1
Spina bifida of lumbar region survenue (attribut) True congénital Inferred relationship Some 1
Congenital protrusion of tongue survenue (attribut) True congénital Inferred relationship Some 1
Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Low lumbar myelomeningocele (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Cervical myelocele survenue (attribut) True congénital Inferred relationship Some 1
Cervical myelocele survenue (attribut) True congénital Inferred relationship Some 2
Congenital cerebral hernia survenue (attribut) True congénital Inferred relationship Some 1
Cranial hydromeningocele survenue (attribut) False congénital Inferred relationship Some 1
Thoracic myelocele survenue (attribut) True congénital Inferred relationship Some 2
Dens evaginatus survenue (attribut) False congénital Inferred relationship Some 1
High lumbar myelomeningocele (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Lumbar myelocele survenue (attribut) True congénital Inferred relationship Some 1
Lumbar myelocele survenue (attribut) True congénital Inferred relationship Some 2
Lumbar spina bifida without hydrocephalus - closed survenue (attribut) True congénital Inferred relationship Some 1
Thoracic meningomyelocele survenue (attribut) False congénital Inferred relationship Some 2
Thoracic meningomyelocele survenue (attribut) True congénital Inferred relationship Some 3
Thoracic meningomyelocele survenue (attribut) True congénital Inferred relationship Some 4
Congenital abnormal long growth of bile duct survenue (attribut) True congénital Inferred relationship Some 1
Cervical meningomyelocele survenue (attribut) False congénital Inferred relationship Some 2
Cervical meningomyelocele survenue (attribut) True congénital Inferred relationship Some 1
Cervical meningomyelocele survenue (attribut) True congénital Inferred relationship Some 4
Bilateral medullary sponge kidney (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Congenital onychauxis survenue (attribut) True congénital Inferred relationship Some 1
Navajo neurohepatopathy survenue (attribut) True congénital Inferred relationship Some 2
Navajo neurohepatopathy survenue (attribut) True congénital Inferred relationship Some 1
Familial congenital mirror movements survenue (attribut) True congénital Inferred relationship Some 1
Antecubital pterygium syndrome survenue (attribut) True congénital Inferred relationship Some 1
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Pulmonary valve agenesis, intact ventricular septum, persistent ductus arteriosus syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Pulmonary valve agenesis, intact ventricular septum, persistent ductus arteriosus syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Craniorhiny (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Craniorhiny (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Craniorhiny (disorder) survenue (attribut) True congénital Inferred relationship Some 3
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation survenue (attribut) True congénital Inferred relationship Some 3
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation survenue (attribut) True congénital Inferred relationship Some 2
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation survenue (attribut) True congénital Inferred relationship Some 1
Developmental dislocation of ankle and/or foot (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Developmental dislocation of ankle and/or foot (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Developmental dislocation of joint of shoulder region (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Developmental dislocation of joint of shoulder region (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital single renal cyst (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Ectopic artery (disorder) survenue (attribut) True congénital Inferred relationship Some 1

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