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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
Glycogen storage disease, type VI Occurrence True Congenital Inferred relationship Some 1
Craniolacunia Occurrence False Congenital Inferred relationship Some
Notomelus Occurrence False Congenital Inferred relationship Some
Congenital atresia of ejaculatory duct Occurrence False Congenital Inferred relationship Some
Thanatophoric dysplasia Occurrence False Congenital Inferred relationship Some
Abnormal number of cusps Occurrence False Congenital Inferred relationship Some
8q partial monosomy syndrome Occurrence False Congenital Inferred relationship Some
Accessory tragus of ear Occurrence False Congenital Inferred relationship Some
Klippel's disease Occurrence False Congenital Inferred relationship Some
Peg-shaped teeth Occurrence False Congenital Inferred relationship Some
Longitudinal deficiency of tarsal bone Occurrence False Congenital Inferred relationship Some
Congenital total cataract Occurrence False Congenital Inferred relationship Some
Congenital atresia of pharynx Occurrence False Congenital Inferred relationship Some
Glycogen storage disease Occurrence True Congenital Inferred relationship Some 1
Congenital adhesions of peritoneum Occurrence False Congenital Inferred relationship Some
Congenital alopecia Occurrence False Congenital Inferred relationship Some
Combined molybdoflavoprotein enzyme deficiency Occurrence False Congenital Inferred relationship Some
Darwin's tubercle Occurrence False Congenital Inferred relationship Some
Paraumbilical hernia Occurrence False Congenital Inferred relationship Some
Dihydrolipoamide dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
Congenital insufficiency of mitral valve Occurrence False Congenital Inferred relationship Some
Anomalous pulmonary venous drainage to coronary sinus Occurrence False Congenital Inferred relationship Some
Extralobar bronchopulmonary sequestration Occurrence False Congenital Inferred relationship Some
Myelatelia Occurrence False Congenital Inferred relationship Some
Congenital malrotation of intestine Occurrence False Congenital Inferred relationship Some
Porokeratosis of Mibelli, superficial disseminated type Occurrence False Congenital Inferred relationship Some
Hydranencephaly Occurrence False Congenital Inferred relationship Some
Spondyloschisis Occurrence False Congenital Inferred relationship Some
Congenital dilatation of oesophagus Occurrence False Congenital Inferred relationship Some
Neonatal cystine-lysinuria Occurrence False Congenital Inferred relationship Some
Glucose-6-phosphate transport defect Occurrence True Congenital Inferred relationship Some 1
Acquired supradiaphragmatic diverticulum of oesophagus Occurrence False Congenital Inferred relationship Some
Childhood hypophosphatasia Occurrence True Congenital Inferred relationship Some 2
Alpha-1 antitrypsin deficiency Occurrence True Congenital Inferred relationship Some 3
Pygoamorphus Occurrence False Congenital Inferred relationship Some
Accessory kidney Occurrence False Congenital Inferred relationship Some
Kundrat's syndrome Occurrence False Congenital Inferred relationship Some
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome Occurrence False Congenital Inferred relationship Some
Ventricular septal defect Occurrence False Congenital Inferred relationship Some
Atresia of foramen of Magendie Occurrence False Congenital Inferred relationship Some
Cleft nose Occurrence False Congenital Inferred relationship Some
1q partial monosomy Occurrence False Congenital Inferred relationship Some
Talipes calcaneovarus Occurrence False Congenital Inferred relationship Some
Dolichocolon Occurrence False Congenital Inferred relationship Some
Omocephalus Occurrence False Congenital Inferred relationship Some
Citrullinaemia, neonatal type Occurrence False Congenital Inferred relationship Some
Congenital choledochal cyst Occurrence False Congenital Inferred relationship Some
Fanconi's anaemia Occurrence False Congenital Inferred relationship Some
Brachymetatarsia Occurrence False Congenital Inferred relationship Some
Idiopathic scoliosis AND/OR kyphoscoliosis Occurrence False Congenital Inferred relationship Some
Thoracic spina bifida Occurrence False Congenital Inferred relationship Some 5
Ehlers-Danlos syndrome, type 3 Occurrence False Congenital Inferred relationship Some
Ruvalcaba syndrome Occurrence False Congenital Inferred relationship Some
Restrictive cardiomyopathy secondary to familial storage disease Occurrence False Congenital Inferred relationship Some
Holoprosencephaly sequence Occurrence False Congenital Inferred relationship Some
Congenital ischaemic atrophy of central nervous system structure Occurrence False Congenital Inferred relationship Some
Pericarditis co-occurrent and due to Mulibrey nanism Occurrence False Congenital Inferred relationship Some
Benign recurrent intrahepatic cholestasis Occurrence False Congenital Inferred relationship Some
Cobalamin D disease Occurrence False Congenital Inferred relationship Some
Epignathus Occurrence False Congenital Inferred relationship Some
Polysomatous monster Occurrence False Congenital Inferred relationship Some
Congenital hydroureter Occurrence False Congenital Inferred relationship Some
Ectodermal dysplasia-ocular malformation syndrome Occurrence False Congenital Inferred relationship Some
Severe combined immunodeficiency disease Occurrence True Congenital Inferred relationship Some 1
Ring chromosome 21 syndrome Occurrence False Congenital Inferred relationship Some
Congenital cyst of vulva Occurrence False Congenital Inferred relationship Some
Thiamin-responsive maple syrup urine disease Occurrence True Congenital Inferred relationship Some 1
Citrullinaemia, subacute type Occurrence False Congenital Inferred relationship Some
Bicornuate uterus Occurrence False Congenital Inferred relationship Some
Laevocardia Occurrence False Congenital Inferred relationship Some
Cerebral cortical dysgenesis Occurrence False Congenital Inferred relationship Some
Vascular anomaly of umbilical cord Occurrence False Congenital Inferred relationship Some
Congenital atresia of artery Occurrence False Congenital Inferred relationship Some
Familial hypercholesterolaemia Occurrence False Congenital Inferred relationship Some
Talipes calcaneovalgus Occurrence False Congenital Inferred relationship Some
Congenital anomaly of lower alimentary tract Occurrence False Congenital Inferred relationship Some
Arteriohepatic dysplasia Occurrence False Congenital Inferred relationship Some
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Occurrence False Congenital Inferred relationship Some
Congenital dislocation of elbow Occurrence False Congenital Inferred relationship Some
Congenital deviation of ureter Occurrence False Congenital Inferred relationship Some
Infundibular pulmonic stenosis Occurrence False Congenital Inferred relationship Some
Oblique pelvis Occurrence False Congenital Inferred relationship Some
12p partial monosomy syndrome Occurrence False Congenital Inferred relationship Some
Congenital anomaly of face bones Occurrence False Congenital Inferred relationship Some
Acetyl-CoA: acyltransferase deficiency Occurrence False Congenital Inferred relationship Some
Anomaly of chromosome pair 17 Occurrence False Congenital Inferred relationship Some
Syndactyly of toes Occurrence False Congenital Inferred relationship Some
Hooft's syndrome Occurrence False Congenital Inferred relationship Some
Anomalous pulmonary venous drainage to hepatic veins Occurrence False Congenital Inferred relationship Some
Craniorachischisis Occurrence False Congenital Inferred relationship Some 3
Spina bifida of cervical region Occurrence False Congenital Inferred relationship Some 5
Anomaly of chromosome pair 2 Occurrence False Congenital Inferred relationship Some
Microdontia Occurrence False Congenital Inferred relationship Some
Longitudinal deficiency of metacarpal bone Occurrence False Congenital Inferred relationship Some
Congenital anomaly of the thyroid gland Occurrence False Congenital Inferred relationship Some
Manus extensa Occurrence False Congenital Inferred relationship Some
Disorder of purine metabolism Occurrence False Congenital Inferred relationship Some
Microglossia Occurrence False Congenital Inferred relationship Some
Mild hereditary spherocytosis due to spectrin deficiency Occurrence False Congenital Inferred relationship Some
Congenital hypoplasia of kidney Occurrence False Congenital Inferred relationship Some
Unilateral incomplete cleft lip Occurrence False Congenital Inferred relationship Some

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Reference Sets

Qualifier value foundation reference set

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