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
Frank-Ter Haar syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Frank-Ter Haar syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Cervical thymic remnant	Occurrence	True	Congenital	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism, type 2	Occurrence	True	Congenital	Inferred relationship	Some	1
manus flexa	Occurrence	False	Congenital	Inferred relationship	Some	2
Duplex kidney with reflux in both ureters	Occurrence	True	Congenital	Inferred relationship	Some	1
Dolichocephalic dwarfism	Occurrence	True	Congenital	Inferred relationship	Some	1
Atrioventricular septal defect: atrial and ventricular components	Occurrence	True	Congenital	Inferred relationship	Some	1
Lethal faciocardiomelic dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Lethal faciocardiomelic dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Metaphyseal chondrodysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Marie Unna syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Arteriovenous malformation of maxilla (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia Missouri type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anosmia	Occurrence	True	Congenital	Inferred relationship	Some	1
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Thoracic spina bifida with hydrocephalus	Occurrence	True	Congenital	Inferred relationship	Some	3
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Ackerman syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Ackerman syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Crouzon syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Crouzon syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Ruptured spinal arteriovenous malformation	Occurrence	True	Congenital	Inferred relationship	Some	1
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Senter syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Fibrolipoma of filum terminale	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondylodysplastic group	Occurrence	True	Congenital	Inferred relationship	Some	1
Thoracic aortic coarctation	Occurrence	True	Congenital	Inferred relationship	Some	1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypoplasia of left heart without intrinsic valve stenosis and without atresia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Incomplete ossification of humerus	Occurrence	True	Congenital	Inferred relationship	Some	1
Basal epidermolysis bullosa simplex (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Goltz syndrom	Occurrence	False	Congenital	Inferred relationship	Some	1
Simple syndactyly of toes second to fourth web	Occurrence	False	Congenital	Inferred relationship	Some	1
Puerto Rican infant hypotonia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Puerto Rican infant hypotonia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Puerto Rican infant hypotonia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Fried's tooth and nail syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Radioulnar synostosis and dislocation of radial head	Occurrence	True	Congenital	Inferred relationship	Some	2
Radioulnar synostosis and dislocation of radial head	Occurrence	True	Congenital	Inferred relationship	Some	1
trunkalklaffdysplasi	Occurrence	False	Congenital	Inferred relationship	Some	1
Thickened earlobe with conductive deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Thickened earlobe with conductive deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Auriculo-condylar syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Pili torti with developmental delay and neurological abnormality syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Constriction ring of lower limb with lymphedema	Occurrence	True	Congenital	Inferred relationship	Some	1
Coronary orifice asymmetrical	Occurrence	True	Congenital	Inferred relationship	Some	1
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Meckel's diverticulum	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft palate with short stature and vertebral anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Thanatophoric dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cataract with deafness and hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital cataract with deafness and hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Accessory liver	Occurrence	True	Congenital	Inferred relationship	Some	1
Dicephalus dipus dibrachius (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Pseudoaminopterin syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Pseudoaminopterin syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Pseudoaminopterin syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital pectus excavatum (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Juvenile GM1 gangliosidosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Thoracolaryngopelvic dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	2
Thoracolaryngopelvic dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Acrorenoocular syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Acrorenoocular syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypergonadotropic hypogonadism with cataract syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Van den Bosch syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Van den Bosch syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Van den Bosch syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
X-linked lissencephaly with abnormal genitalia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked lissencephaly with abnormal genitalia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Congenital retraction of eyelid (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Defects of the tubular (and flat) bones and/or axial skeleton	Occurrence	True	Congenital	Inferred relationship	Some	1
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Pseudohypoparathyroidism type II	Occurrence	False	Congenital	Inferred relationship	Some	1
imperforerad anus	Occurrence	False	Congenital	Inferred relationship	Some	1
Focal nodular hypoplasia of liver	Occurrence	True	Congenital	Inferred relationship	Some	1
Aspartylglucosaminuria	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cystic bronchiectasis	Occurrence	True	Congenital	Inferred relationship	Some	1
Dysplasia with decreased bone density	Occurrence	True	Congenital	Inferred relationship	Some	1
Upington disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Decreased anogenital distance	Occurrence	True	Congenital	Inferred relationship	Some	1
Amyotrophia congenita	Occurrence	True	Congenital	Inferred relationship	Some	1
brakyolmi typ 1, Toledotyp	Occurrence	False	Congenital	Inferred relationship	Some	2
brakyolmi typ 1, Toledotyp	Occurrence	False	Congenital	Inferred relationship	Some	1
Congenital pyloric membrane	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cerebral arteriovenous aneurysm (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Amelogenesis imperfecta co-occurrent with cone rod dystrophy	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Pseudohermaphroditism	Occurrence	True	Congenital	Inferred relationship	Some	1

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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)