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255399007: Congenital (qualifier value)

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

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Entire term case insensitive SNOMED CT core module
380599019 Congenita en Synonym Active Entire term case insensitive SNOMED CT core module
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Tetrasomy 21 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal 17p13.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Verloove Vanhorick Brubakk syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
7p22.1 microduplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Xq12-q13.3 duplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
9p13 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
X-linked agammaglobulinemia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X-linked agammaglobulinemia with growth hormone deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive spastic paraplegia type 21 Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Autosomal recessive spastic paraplegia type 43 Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Proximal chromosome 18q deletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Branchiootic syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Autosomal recessive myogenic arthrogryposis multiplex congenita Occurrence False Congenital Inferred relationship Existential restriction modifier 4
Autosomal dominant slowed nerve conduction velocity Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Laing early-onset distal myopathy Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Intellectual disability Birk-Barel type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Microphthalmos co-occurrent with congenital ocular coloboma Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Fundus albipunctatus Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital muscular dystrophy type 1B Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Congenital myopathy with internal nuclei and atypical cores Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cryptorchidism, arachnodactyly, intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Laubry Pezzi syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
King Denborough syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Intellectual disability, myopathy, short stature, endocrine defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Inherited isolated adrenal insufficiency due to partial cytochrome P450 family 11 subfamily A member 1 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Familial thoracic aortic aneurysm and aortic dissection Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mosaic trisomy 9 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Muscle filaminopathy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Myopathy with hexagonally cross-linked tubular arrays Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Non-distal trisomy 13q Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Non-distal trisomy 9q Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive spastic paraplegia type 62 Occurrence False Congenital Inferred relationship Existential restriction modifier 2
SURF1, cytochrome c oxidase assembly factor related Charcot-Marie-Tooth disease type 4 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Spheroid body myopathy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Rolandic epilepsy, speech dyspraxia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Mosaic trisomy 5 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Otofaciocervical syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Otofaciocervical syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Mosaic trisomy 9 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
9p13 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Right aortic arch and left descending aorta Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mosaic trisomy 3 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Connective tissue disorder due to lysyl hydroxylase-3 deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Incomplete left cleft lip and incomplete cleft of left alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oro-facial digital syndrome type 9 Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Renal hepatic pancreatic dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Renal hepatic pancreatic dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cleft hard palate with right cleft lip and cleft of right alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Double aortic arch with both patent Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Double aortic arch with left arch dominant and coarctation of right arch Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Low set ears Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Double aortic arch with left arch dominant and atresia of right arch Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Autosomal recessive spastic paraplegia type 43 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Mosaic trisomy 4 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Distal 17p13.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oro-facial digital syndrome type 11 Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Pachygyria, intellectual disability, epilepsy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Branchiootic syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oculopharyngodistal myopathy Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Oculopharyngodistal myopathy Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Oculopharyngodistal myopathy Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Chondroectodermal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Chondroectodermal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Isolated agammaglobulinemia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant spastic paraplegia type 37 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant spastic paraplegia type 37 Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Facial dysmorphism, cleft palate, loose skin syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Facial dysmorphism, cleft palate, loose skin syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Craniofaciofrontodigital syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Craniofaciofrontodigital syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Short stature, wormian bones, dextrocardia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cleft soft palate with left cleft lip and cleft of left alveolar process of maxilla Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Craniodigital syndrome and intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Dislocation of hip and facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Malan overgrowth syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Spina bifida and hypospadias syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Spina bifida and hypospadias syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Spina bifida and hypospadias syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Spina bifida and hypospadias syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Spina bifida and hypospadias syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Kelch like family member 9 related early-onset distal myopathy Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Symbrachydactyly of digit of hand Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Spondyloperipheral dysplasia with short ulna syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mosaic trisomy 14 syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intellectual disability, brachydactyly, Pierre Robin syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oro-facial digital syndrome type 14 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oro-facial digital syndrome type 14 Occurrence True Congenital Inferred relationship Existential restriction modifier 1

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