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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
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mitral valve dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Lipodystrophy, intellectual disability, deafness syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Lipodystrophy, intellectual disability, deafness syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Coloboma of macula with brachydactyly type B syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
46,XX disorder of sex development with skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital short quadriceps Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Incomplete ossification of sternebra Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Left ventricular outflow tract obstruction due to anterolateral muscle band Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Microcephalus co-occurrent with cervical spine fusion anomaly Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Central core disease Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital stenosis of vagina affecting pregnancy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Amyoplasia congenita disruptive sequence Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Thoracic insufficiency syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Microphthalmia with brain atrophy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Sex reversion, kidney, adrenal and lung dysgenesis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Sex reversion, kidney, adrenal and lung dysgenesis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Sex reversion, kidney, adrenal and lung dysgenesis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
XY type gonadal dysgenesis with associated anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
XY type gonadal dysgenesis with associated anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Campomelia Cumming type Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Campomelia Cumming type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cleft lip retinopathy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Cleft lip retinopathy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Multiple epiphyseal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Isotretinoin embryopathy-like syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Isotretinoin embryopathy-like syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Isotretinoin embryopathy-like syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Distichiasis Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Capillary-venous malformation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Patent ductus arteriosus with right-to-left shunt Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Syndactyly type 2 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital corneal opacity interfering with vision Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Arachnodactyly with abnormal ossification and intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Double artery Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital asymmetry of jaw Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Opitz-Frias syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Kniest-Stickler dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Supradiaphragmatic total anomalous pulmonary venous return Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Patent vitelline duct Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Dento-oculocutaneous syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Multiple dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ehlers-Danlos syndrome progeroid type Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Ehlers-Danlos syndrome progeroid type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Arteriovenous malformation of duodenum Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Polydactyly of fingers Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Acephalocheiria Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Acephalocheiria Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Acephalocheiria Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital fissure of epiglottis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Absent ductus venosus with direct connection of umbilical vein to inferior vena cava Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hirschsprung disease with deafness and polydactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Hirschsprung disease with deafness and polydactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Hirschsprung disease with deafness and polydactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Radial aplasia-thrombocytopenia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Anomalous pulmonary venous drainage to coronary sinus Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Pulmonary hypoplasia associated with short gestation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Straddling mitral valve Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Thoracic hydromeningocele Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Thoracic hydromeningocele Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Oligomeganephronic hypoplasia of kidney Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Epstein's pearl of palate Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Microdactyly Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Pyknoachondrogenesis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Pyknoachondrogenesis Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Pyknoachondrogenesis Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Ehlers-Danlos syndrome kyphoscoliotic type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Frontonasal dysplasia with alopecia and genital anomaly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Frontonasal dysplasia with alopecia and genital anomaly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Frontonasal dysplasia with alopecia and genital anomaly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Macropalpebral fissure Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital anomaly of ear with impairment of hearing Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Saldino-Mainzer dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Cystic hygroma in fetus Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Adult GM1 gangliosidosis Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Right ventricular outflow tract obstruction due to prolapsed arterial valve Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Oculootoradial syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cutis laxa, recessive, type II Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Gillespie syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Spina bifida aperta of lumbar spine Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Spina bifida aperta of lumbar spine Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Symmetrical dyschromatosis of extremities Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Camptobrachydactyly Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Camptobrachydactyly Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Camptobrachydactyly Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital abnormality of right atrioventricular valve papillary muscle in double inlet ventricle Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cervical spina bifida with hydrocephalus Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Scypho-patellar dysplasia Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Scypho-patellar dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hypoplastic enamel-onycholysis-hypohidrosis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Pericardial and diaphragmatic defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3

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