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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
Membranous ventricular septum defect Occurrence False Congenital Inferred relationship Some
Biallelic RPE65 mutation associated retinal dystrophy 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 Occurrence True Congenital Inferred relationship Some 1
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome Occurrence True Congenital Inferred relationship Some 1
Spheroid body myopathy Occurrence True Congenital Inferred relationship Some 1
Rolandic epilepsy, speech dyspraxia syndrome Occurrence True Congenital Inferred relationship Some 1
Secondary malignant neoplasm of ectopic female breast tissue Occurrence False Congenital Inferred relationship Some
Secondary malignant neoplasm of ectopic male breast tissue Occurrence False Congenital Inferred relationship Some
Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy Occurrence True Congenital Inferred relationship Some 2
Congenital retinal aneurysm Occurrence False Congenital Inferred relationship Some
Mosaic trisomy 5 syndrome 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 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
Orofaciodigital syndrome type 9 Occurrence True Congenital Inferred relationship Some 4
Renal hepatic pancreatic dysplasia Occurrence True Congenital Inferred relationship Some 2
Renal hepatic pancreatic dysplasia Occurrence True Congenital Inferred relationship Some 1
Cleft hard palate with right cleft lip and cleft of right alveolar process of maxilla 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 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 Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 43 Occurrence False Congenital Inferred relationship Some 1
Mosaic trisomy 4 syndrome Occurrence True Congenital Inferred relationship Some 1
Distal 17p13.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Orofaciodigital syndrome type 11 Occurrence True Congenital Inferred relationship Some 4
Cleft soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 2
Pachygyria, intellectual disability, epilepsy syndrome Occurrence True Congenital Inferred relationship Some 1
Branchiootic syndrome Occurrence True Congenital Inferred relationship Some 1
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Occurrence True Congenital Inferred relationship Some 1
Oculopharyngodistal myopathy Occurrence False Congenital Inferred relationship Some 1
Oculopharyngodistal myopathy Occurrence False Congenital Inferred relationship Some 3
Oculopharyngodistal myopathy 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 Occurrence True Congenital Inferred relationship Some 2
Chondroectodermal dysplasia Occurrence True Congenital Inferred relationship Some 1
Isolated agammaglobulinaemia Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 37 Occurrence False Congenital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 37 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 Occurrence True Congenital Inferred relationship Some 2
Craniofaciofrontodigital syndrome 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 Occurrence True Congenital Inferred relationship Some 2
Multiple epiphyseal dysplasia with severe proximal femoral dysplasia Occurrence True Congenital Inferred relationship Some 1
Cleft soft palate with left cleft lip and cleft of left alveolar process of maxilla 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 Occurrence True Congenital Inferred relationship Some 5
Spina bifida and hypospadias syndrome Occurrence True Congenital Inferred relationship Some 3
Spina bifida and hypospadias syndrome Occurrence True Congenital Inferred relationship Some 2
Spina bifida and hypospadias syndrome Occurrence True Congenital Inferred relationship Some 1
Spina bifida and hypospadias syndrome Occurrence True Congenital Inferred relationship Some 4
Kelch like family member 9 related early-onset distal myopathy Occurrence False Congenital Inferred relationship Some 1
Symbrachydactyly of digit of hand Occurrence True Congenital Inferred relationship Some 1
Spondyloperipheral dysplasia with short ulna syndrome Occurrence True Congenital Inferred relationship Some 1
Mosaic trisomy 14 Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, brachydactyly, Pierre Robin syndrome 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
Oro-facial digital syndrome type 14 Occurrence True Congenital Inferred relationship Some 3
Oro-facial digital syndrome type 14 Occurrence True Congenital Inferred relationship Some 4
Oro-facial digital syndrome type 14 Occurrence True Congenital Inferred relationship Some 5
Larsen-like osseous dysplasia, short stature syndrome Occurrence True Congenital Inferred relationship Some 1
Double aortic arch with left arch dominant Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 35 Occurrence False Congenital Inferred relationship Some 1
Right aortic arch Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, polydactyly, uncombable hair syndrome Occurrence True Congenital Inferred relationship Some 2
Intellectual disability, polydactyly, uncombable hair syndrome Occurrence True Congenital Inferred relationship Some 1
Orofaciodigital syndrome type 8 Occurrence True Congenital Inferred relationship Some 3
Cleft hard and soft palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 2
Cleft soft palate with right cleft lip and cleft of right alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 3
Velofacioskeletal syndrome Occurrence True Congenital Inferred relationship Some 1
Striate palmoplantar keratoderma Occurrence False Congenital Inferred relationship Some 1
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 2
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 4
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 3
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Right cleft lip Occurrence True Congenital Inferred relationship Some 1
Colobomatous microphthalmia, rhizomelic dysplasia syndrome Occurrence True Congenital Inferred relationship Some 2
Colobomatous microphthalmia, rhizomelic dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Occurrence True Congenital Inferred relationship Some 3
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Occurrence True Congenital Inferred relationship Some 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Occurrence True Congenital Inferred relationship Some 1
Familial hyperprolactinaemia Occurrence False Congenital Inferred relationship Some 1
Myosclerosis Occurrence True Congenital Inferred relationship Some 1
17q12 microduplication syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital lymphangioma of larynx Occurrence True Congenital Inferred relationship Some 1
Corpus callosum agenesis, abnormal genitalia syndrome Occurrence True Congenital Inferred relationship Some 1
Multiple pterygium syndrome Occurrence True Congenital Inferred relationship Some 1
Woolly hair with palmoplantar keratoderma syndrome Occurrence True Congenital Inferred relationship Some 2

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Reference Sets

Qualifier value foundation reference set

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