255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Congenital

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

Descriptions:

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
Bilateral incomplete cleft lip and alveolus	Occurrence	True	Congenital	Inferred relationship	Some	3
Multiple congenital cardiac defects	Occurrence	True	Congenital	Inferred relationship	Some	1
Incomplete bilateral cleft palate	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital sensorineural hearing loss (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Incomplete cleft palate (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cystic testicular dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	2
Aortic orifice left side by side with respect to pulmonary orifice (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Reunion Island Larsen-liknande syndrom	Occurrence	False	Congenital	Inferred relationship	Some	1
Reunion Island Larsen-liknande syndrom	Occurrence	False	Congenital	Inferred relationship	Some	3
Reunion Island Larsen-liknande syndrom	Occurrence	False	Congenital	Inferred relationship	Some	2
Inferior vena cava connecting to morphological left atrium	Occurrence	True	Congenital	Inferred relationship	Some	1
Retroesophageal pulmonary artery	Occurrence	True	Congenital	Inferred relationship	Some	1
Aortic orifice anterior left with respect to pulmonary orifice (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	Occurrence	True	Congenital	Inferred relationship	Some	1
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	Occurrence	True	Congenital	Inferred relationship	Some	2
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	Occurrence	True	Congenital	Inferred relationship	Some	3
Stomach in central position (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Aortic orifice posterior with respect to pulmonary orifice (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Developmental displacement of brachial plexus	Occurrence	True	Congenital	Inferred relationship	Some	1
Aortic orifice anterior right with respect to pulmonary orifice (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Aortic orifice right side by side with respect to pulmonary orifice (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Intrahepatic gallbladder	Occurrence	True	Congenital	Inferred relationship	Some	1
Aortic orifice posterior left with respect to pulmonary orifice (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Aortic orifice anterior with respect to pulmonary orifice (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Right-sided pulmonary arterial trunk	Occurrence	True	Congenital	Inferred relationship	Some	1
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Juxtaposed atrial appendage	Occurrence	True	Congenital	Inferred relationship	Some	1
Malalignment of aortic sinus in relation to pulmonary sinus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Combined oxidative phosphorylation defect type 11	Occurrence	True	Congenital	Inferred relationship	Some	1
Mixed sclerosing bone dystrophy with extra-skeletal manifestation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Fetal spina bifida (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Fetal spina bifida (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Fetal hydrocephalus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 13 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Hereditary hyperekplexia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Syndactyly, polydactyly, ear lobe syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Syndactyly, polydactyly, ear lobe syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Syndactyly, polydactyly, ear lobe syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Syndactyly, polydactyly, ear lobe syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Port-wine nevi, mega cisterna magna, hydrocephalus syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Port-wine nevi, mega cisterna magna, hydrocephalus syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Port-wine nevi, mega cisterna magna, hydrocephalus syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Paternal uniparental disomy of chromosome X	Occurrence	True	Congenital	Inferred relationship	Some	1
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked intellectual disability due to GRIA3 mutations	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked spastic paraplegia type 16 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
X-linked spastic paraplegia type 16 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder)	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 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 38 (disorder)	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 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Heart defect, tongue hamartoma, polysyndactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital supravalvular mitral stenosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive brachyolmia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive brachyolmia (disorder)	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 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder)	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-esophageal fistula without atresia of esophagus	Occurrence	True	Congenital	Inferred relationship	Some	1
Tracheo-esophageal fistula without atresia of esophagus	Occurrence	True	Congenital	Inferred relationship	Some	2
Platyspondylia	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital aneurysm of precerebral artery (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 56 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Congenital stenosis of pulmonary artery (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive secondary polycythemia not associated with Von Hippel Lindau gene (disorder)	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 sulfonylurea receptor 1 deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital aneurysm of cerebral artery (disorder)	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 (disorder)	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

Start Previous Page 295 of 322 Next End

This concept is not in any reference sets

Back to Start

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)