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
Tetrasomy 21 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal 17p13.3 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Verloove Vanhorick Brubakk syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
7p22.1 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Xq12-q13.3 duplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
9p13 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome	Occurrence	True	Congenital	Inferred relationship	Some	5
Progressive external ophthalmoplegia, myopathy, emaciation syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
X-linked agammaglobulinemia	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked agammaglobulinemia with growth hormone deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 21	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 43 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Proximal chromosome 18q deletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Branchiootic syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Autosomal dominant slowed nerve conduction velocity	Occurrence	True	Congenital	Inferred relationship	Some	1
Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Laing early-onset distal myopathy	Occurrence	False	Congenital	Inferred relationship	Some	2
Intellectual disability Birk-Barel type	Occurrence	True	Congenital	Inferred relationship	Some	1
Microphthalmos co-occurrent with congenital ocular coloboma (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Fundus albipunctatus	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital muscular dystrophy type 1B	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital myopathy with internal nuclei and atypical cores (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cryptorchidism, arachnodactyly, intellectual disability syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Laubry Pezzi syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
King Denborough syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Intellectual disability, myopathy, short stature, endocrine defect syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Familial thoracic aortic aneurysm and aortic dissection	Occurrence	True	Congenital	Inferred relationship	Some	1
Mosaic trisomy 9 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Muscle filaminopathy	Occurrence	True	Congenital	Inferred relationship	Some	1
Myopathy with hexagonally cross-linked tubular arrays	Occurrence	True	Congenital	Inferred relationship	Some	1
Non-distal trisomy 13q	Occurrence	True	Congenital	Inferred relationship	Some	1
Non-distal trisomy 9q	Occurrence	True	Congenital	Inferred relationship	Some	1
Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 62	Occurrence	False	Congenital	Inferred relationship	Some	2
SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spheroid body myopathy	Occurrence	True	Congenital	Inferred relationship	Some	1
Rolandic epilepsy, speech dyspraxia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Mosaic trisomy 5 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Otofaciocervical syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Otofaciocervical syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Mosaic trisomy 9 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
9p13 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Right aortic arch and left descending aorta	Occurrence	True	Congenital	Inferred relationship	Some	1
Mosaic trisomy 3 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Connective tissue disorder due to lysyl hydroxylase-3 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Incomplete left cleft lip and incomplete cleft of left alveolar process of maxilla	Occurrence	True	Congenital	Inferred relationship	Some	1
Oro-facial digital syndrome type 9 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Renal hepatic pancreatic dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Renal hepatic pancreatic dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft hard palate with right cleft lip and cleft of right alveolar process of maxilla (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Double aortic arch with both patent	Occurrence	True	Congenital	Inferred relationship	Some	1
Double aortic arch with left arch dominant and coarctation of right arch (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Low set ears	Occurrence	True	Congenital	Inferred relationship	Some	1
Double aortic arch with left arch dominant and atresia of right arch (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 43 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Mosaic trisomy 4 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal 17p13.3 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Oro-facial digital syndrome type 11 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Pachygyria, intellectual disability, epilepsy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Branchiootic syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Oculopharyngodistal myopathy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Oculopharyngodistal myopathy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Oculopharyngodistal myopathy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Larsen-like syndrome B3GAT3 type	Occurrence	True	Congenital	Inferred relationship	Some	1
Larsen-like syndrome B3GAT3 type	Occurrence	True	Congenital	Inferred relationship	Some	3
Larsen-like syndrome B3GAT3 type	Occurrence	True	Congenital	Inferred relationship	Some	2
Chondroectodermal dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Chondroectodermal dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Isolated agammaglobulinaemia	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 37 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 37 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Facial dysmorphism, cleft palate, loose skin syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Facial dysmorphism, cleft palate, loose skin syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Craniofaciofrontodigital syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Craniofaciofrontodigital syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Short stature, wormian bones, dextrocardia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft soft palate with left cleft lip and cleft of left alveolar process of maxilla (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Craniodigital syndrome and intellectual disability syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Dislocation of hip and facial dysmorphism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Malan overgrowth syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Spina bifida and hypospadias syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Spina bifida and hypospadias syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Spina bifida and hypospadias syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Spina bifida and hypospadias syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spina bifida and hypospadias syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
KLHL9-related early-onset distal myopathy	Occurrence	False	Congenital	Inferred relationship	Some	1
Symbrachydactyly of digit of hand (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondyloperipheral dysplasia with short ulna syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mosaic trisomy 14 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Oro-facial digital syndrome type 14	Occurrence	True	Congenital	Inferred relationship	Some	2
Oro-facial digital syndrome type 14	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)