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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
X-linked intellectual disability due to GRIA3 mutations Occurrence True Congenital Inferred relationship Some 1
X-linked spastic paraplegia type 16 Occurrence False Congenital Inferred relationship Some 2
X-linked spastic paraplegia type 16 Occurrence False Congenital Inferred relationship Some 1
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Occurrence True Congenital Inferred relationship Some 1
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Occurrence True Congenital Inferred relationship Some 3
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Occurrence True Congenital Inferred relationship Some 2
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 3
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 2
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 38 Occurrence False Congenital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 38 Occurrence False Congenital Inferred relationship Some 2
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Occurrence True Congenital Inferred relationship Some 1
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Occurrence True Congenital Inferred relationship Some 1
Conductive deafness, malformed external ear syndrome Occurrence True Congenital Inferred relationship Some 1
Maternal uniparental disomy of chromosome X Occurrence True Congenital Inferred relationship Some 1
Hirschsprung disease, ganglioneuroblastoma syndrome Occurrence True Congenital Inferred relationship Some 1
Hirschsprung disease, ganglioneuroblastoma syndrome Occurrence True Congenital Inferred relationship Some 2
Heart defect, tongue hamartoma, polysyndactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Heart defect, tongue hamartoma, polysyndactyly syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital supravalvular mitral stenosis Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive brachyolmia Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive brachyolmia Occurrence False Congenital Inferred relationship Some 2
Congenital abnormal number of coronary ostia Occurrence True Congenital Inferred relationship Some 1
Parachute malformation of tricuspid valve Occurrence True Congenital Inferred relationship Some 1
External auditory canal atresia, vertical talus, hypertelorism syndrome Occurrence True Congenital Inferred relationship Some 1
External auditory canal atresia, vertical talus, hypertelorism syndrome Occurrence True Congenital Inferred relationship Some 3
External auditory canal atresia, vertical talus, hypertelorism syndrome Occurrence True Congenital Inferred relationship Some 4
External auditory canal atresia, vertical talus, hypertelorism syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital absence of auricle with stenosis of auditory canal Occurrence True Congenital Inferred relationship Some 2
Congenital absence of auricle with stenosis of auditory canal Occurrence True Congenital Inferred relationship Some 1
Tracheo-oesophageal fistula without atresia of oesophagus Occurrence True Congenital Inferred relationship Some 1
Tracheo-oesophageal fistula without atresia of oesophagus Occurrence True Congenital Inferred relationship Some 2
Platyspondylia Occurrence True Congenital Inferred relationship Some 1
Congenital aneurysm of precerebral artery Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 56 Occurrence False Congenital Inferred relationship Some 1
Congenital stenosis of pulmonary artery Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive secondary polycythaemia not associated with VHL (Von Hippel Lindau) gene Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive hyperinsulinism due to SUR1 deficiency Occurrence True Congenital Inferred relationship Some 1
Congenital aneurysm of cerebral artery Occurrence True Congenital Inferred relationship Some 1
Congenital bronchial stenosis Occurrence True Congenital Inferred relationship Some 1
Congenital thoracostenosis Occurrence True Congenital Inferred relationship Some 1
Congenital supraglottic stenosis Occurrence True Congenital Inferred relationship Some 1
Bilateral multicystic renal dysplasia Occurrence True Congenital Inferred relationship Some 2
Spondylometaphyseal dysplasia Occurrence True Congenital Inferred relationship Some 1
Multicystic renal dysplasia Occurrence True Congenital Inferred relationship Some 2
Otopalatodigital syndrome spectrum disorder Occurrence True Congenital Inferred relationship Some 1
Congenital vascular anomaly of upper eyelid Occurrence True Congenital Inferred relationship Some 1
Congenital vascular anomaly of lower eyelid Occurrence True Congenital Inferred relationship Some 1
Chronic granulomatous disease Occurrence True Congenital Inferred relationship Some 1
Temporal encephalocele Occurrence True Congenital Inferred relationship Some 1
Lumbar meningomyelocele Occurrence True Congenital Inferred relationship Some 3
Lumbar meningomyelocele Occurrence False Congenital Inferred relationship Some 2
Lumbar meningomyelocele Occurrence True Congenital Inferred relationship Some 4
Parietal encephalocele Occurrence True Congenital Inferred relationship Some 1
Congenital cerebral meningocele Occurrence True Congenital Inferred relationship Some 2
Congenital cerebral meningocele Occurrence True Congenital Inferred relationship Some 1
Spina bifida of lumbar region Occurrence True Congenital Inferred relationship Some 1
Congenital protrusion of tongue Occurrence True Congenital Inferred relationship Some 1
Kousseff syndrome Occurrence True Congenital Inferred relationship Some 1
Low lumbar myelomeningocele Occurrence True Congenital Inferred relationship Some 1
Cervical myelocele Occurrence True Congenital Inferred relationship Some 1
Cervical myelocele Occurrence True Congenital Inferred relationship Some 2
Congenital cerebral hernia Occurrence True Congenital Inferred relationship Some 1
Cranial hydromeningocele Occurrence False Congenital Inferred relationship Some 1
Thoracic myelocele Occurrence True Congenital Inferred relationship Some 2
Dens evaginatus Occurrence False Congenital Inferred relationship Some 1
High lumbar myelomeningocele Occurrence True Congenital Inferred relationship Some 1
Lumbar myelocele Occurrence True Congenital Inferred relationship Some 1
Lumbar myelocele Occurrence True Congenital Inferred relationship Some 2
Lumbar spina bifida without hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 1
Thoracic meningomyelocele Occurrence False Congenital Inferred relationship Some 2
Thoracic meningomyelocele Occurrence True Congenital Inferred relationship Some 3
Thoracic meningomyelocele Occurrence True Congenital Inferred relationship Some 4
Congenital abnormal long growth of bile duct Occurrence True Congenital Inferred relationship Some 1
Cervical meningomyelocele Occurrence False Congenital Inferred relationship Some 2
Cervical meningomyelocele Occurrence True Congenital Inferred relationship Some 1
Cervical meningomyelocele Occurrence True Congenital Inferred relationship Some 4
Bilateral medullary sponge kidney Occurrence True Congenital Inferred relationship Some 2
Congenital onychauxis Occurrence True Congenital Inferred relationship Some 1
Navajo neurohepatopathy Occurrence True Congenital Inferred relationship Some 2
Navajo neurohepatopathy Occurrence True Congenital Inferred relationship Some 1
Familial congenital mirror movements Occurrence True Congenital Inferred relationship Some 1
Antecubital pterygium syndrome Occurrence True Congenital Inferred relationship Some 1
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Occurrence True Congenital Inferred relationship Some 2
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Occurrence True Congenital Inferred relationship Some 1
Pulmonary valve agenesis, intact ventricular septum, persistent ductus arteriosus syndrome Occurrence True Congenital Inferred relationship Some 1
Pulmonary valve agenesis, intact ventricular septum, persistent ductus arteriosus syndrome Occurrence True Congenital Inferred relationship Some 2
Craniorhiny Occurrence True Congenital Inferred relationship Some 2
Craniorhiny Occurrence True Congenital Inferred relationship Some 1
Craniorhiny Occurrence True Congenital Inferred relationship Some 3
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Occurrence True Congenital Inferred relationship Some 3
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Occurrence True Congenital Inferred relationship Some 2
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Occurrence True Congenital Inferred relationship Some 1
Developmental dislocation of ankle and/or foot Occurrence True Congenital Inferred relationship Some 1
Developmental dislocation of ankle and/or foot Occurrence True Congenital Inferred relationship Some 2
Developmental dislocation of shoulder Occurrence True Congenital Inferred relationship Some 2
Developmental dislocation of shoulder Occurrence True Congenital Inferred relationship Some 1
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Occurrence True Congenital Inferred relationship Some 1
Congenital single renal cyst Occurrence True Congenital Inferred relationship Some 1
Ectopic artery Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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