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255399007: Congenital (qualifier value)

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

Descriptions:

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
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
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 esophagus (disorder) 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 esophagus 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 (disorder) Occurrence False Congenital Inferred relationship Some
Kundrat's syndrome Occurrence False Congenital Inferred relationship Some
Hyperornithinemia-hyperammonemia-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
Citrullinemia, neonatal type Occurrence False Congenital Inferred relationship Some
Congenital choledochal cyst Occurrence False Congenital Inferred relationship Some
Fanconi's anemia Occurrence False Congenital Inferred relationship Some
Brachymetatarsia Occurrence False Congenital Inferred relationship Some
Idiopathic scoliosis AND/OR kyphoscoliosis Occurrence False Congenital Inferred relationship Some
Spina bifida of dorsal region (disorder) Occurrence False Congenital Inferred relationship Some 5
Hypermobile Ehlers-Danlos syndrome (disorder) 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 ischemic atrophy of central nervous system structure Occurrence False Congenital Inferred relationship Some
Pericarditis secondary to Mulibrey nanism (disorder) Occurrence False Congenital Inferred relationship Some
Benign recurrent intrahepatic cholestasis Occurrence False Congenital Inferred relationship Some
Cobalamin D disease (disorder) Occurrence False Congenital Inferred relationship Some
Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumour size) including obstructive polyhydramnios in the prenatal period and dyspnoea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period. 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
An autosomal anomaly with characteristics of variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinaemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals. 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
Citrullinemia, subacute type Occurrence False Congenital Inferred relationship Some
Bicornuate uterus Occurrence False Congenital Inferred relationship Some
Levocardia 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 hypercholesterolemia 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
Congenital syphilitic encephalitis Occurrence False Congenital Inferred relationship Some
Congenital anomaly of sclera Occurrence False Congenital Inferred relationship Some
Congenital skin fragility of animals Occurrence False Congenital Inferred relationship Some
Rotor syndrome Occurrence True Congenital Inferred relationship Some 1
GM>1< gangliosidosis Occurrence False Congenital Inferred relationship Some
Congenital micrognathism Occurrence False Congenital Inferred relationship Some
Greig cephalopolysyndactyly syndrome Occurrence False Congenital Inferred relationship Some
hémimélie Occurrence False Congenital Inferred relationship Some
Hydroxykynureninuria Occurrence False Congenital Inferred relationship Some
Talipes equinovarus Occurrence False Congenital Inferred relationship Some
Anorectal anomaly Occurrence False Congenital Inferred relationship Some
Mikrophthalmus in Verbindung mit anderen Anomalien des Auges UND/ODER der Augenanhangsgebilde Occurrence False Congenital Inferred relationship Some
Congenital duplication of digestive organs Occurrence False Congenital Inferred relationship Some
Radioulnar synostosis Occurrence False Congenital Inferred relationship Some
GM2 gangliosidosis Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of forehead Occurrence False Congenital Inferred relationship Some
Marshall syndrome Occurrence False Congenital Inferred relationship Some
Talipes calcaneus Occurrence False Congenital Inferred relationship Some 4
Concrescence of teeth Occurrence False Congenital Inferred relationship Some
Familial apolipoprotein C-II deficiency Occurrence False Congenital Inferred relationship Some
Congenital anomaly of lens shape Occurrence False Congenital Inferred relationship Some
Congenital bowing of femur Occurrence False Congenital Inferred relationship Some
Unilateral congenital dislocation of hip Occurrence False Congenital Inferred relationship Some
Adult junctional epidermolysis bullosa Occurrence False Congenital Inferred relationship Some
7q partial trisomy (disorder) Occurrence False Congenital Inferred relationship Some

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