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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
HNSHA due to glucose phosphate isomerase deficiency Occurrence False Congenital Inferred relationship Some
Low assimilation pelvis Occurrence False Congenital Inferred relationship Some
Fumarylacetoacetase deficiency, chronic type Occurrence False Congenital Inferred relationship Some
Accessory lung Occurrence False Congenital Inferred relationship Some
Steroid 21-monooxygenase deficiency, simple virilizing type Occurrence False Congenital Inferred relationship Some
A rare congenital, distal arthrogryposis syndrome characterised by microstomia, whistling-face appearance, chin with V- or H- shaped crease, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis. Occurrence False Congenital Inferred relationship Some
Congenital atresia of pulmonary valve Occurrence False Congenital Inferred relationship Some
Deficiency of N-acetylgalactosamine-4-sulfatase Occurrence True Congenital Inferred relationship Some 1
albinoïdisme Occurrence False Congenital Inferred relationship Some
Congenital supravalvular pulmonary stenosis Occurrence False Congenital Inferred relationship Some
Congenital hip dysplasia Occurrence False Congenital Inferred relationship Some
Cutis laxa senilis Occurrence False Congenital Inferred relationship Some
Longitudinal deficiency of femur Occurrence False Congenital Inferred relationship Some
Rathke's pouch cyst Occurrence False Congenital Inferred relationship Some
Congenital absence of vas deferens Occurrence False Congenital Inferred relationship Some
Oral-facial-digital syndrome Occurrence False Congenital Inferred relationship Some
Bovine spongiform encephalopathy Occurrence False Congenital Inferred relationship Some
Congenital atresia of glottis Occurrence False Congenital Inferred relationship Some
Congenital anomaly of vagina Occurrence False Congenital Inferred relationship Some
Congenital dyserythropoietic anemia Occurrence True Congenital Inferred relationship Some 3
Congenital gastric perforation Occurrence False Congenital Inferred relationship Some
Prolinuria Occurrence False Congenital Inferred relationship Some
Congenital atresia of trachea Occurrence False Congenital Inferred relationship Some
Vascular compression of esophagus by aberrant artery Occurrence False Congenital Inferred relationship Some
Inborn error of pyruvate metabolism (disorder) Occurrence True Congenital Inferred relationship Some 1
Spina bifida with hydrocephalus Occurrence False Congenital Inferred relationship Some 6
Platypellic pelvis Occurrence False Congenital Inferred relationship Some
Complete trisomy 20 syndrome Occurrence False Congenital Inferred relationship Some
Phosphoenolpyruvate carboxykinase (GTP) deficiency Occurrence True Congenital Inferred relationship Some 1
Anomaly of chromosome pair 16 Occurrence False Congenital Inferred relationship Some
Cherubism Occurrence False Congenital Inferred relationship Some
Brunner's gland adenoma Occurrence False Congenital Inferred relationship Some
Testicular regression syndrome Occurrence False Congenital Inferred relationship Some
Embryonal nuclear cataract Occurrence False Congenital Inferred relationship Some
Peutz-Jeghers polyps of small bowel Occurrence False Congenital Inferred relationship Some
Uterus subseptus Occurrence False Congenital Inferred relationship Some
Accessory lacrimal canal Occurrence False Congenital Inferred relationship Some
Anemia following fetal blood loss Occurrence True Congenital Inferred relationship Some 4
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome Occurrence False Congenital Inferred relationship Some
Encephalocystocele Occurrence False Congenital Inferred relationship Some
Beaked pelvis Occurrence False Congenital Inferred relationship Some
Congenital hallux valgus Occurrence False Congenital Inferred relationship Some
Nodular embryo Occurrence False Congenital Inferred relationship Some
Lithopedion Occurrence False Congenital Inferred relationship Some
Congenital anomaly of renal pelvis Occurrence False Congenital Inferred relationship Some
Kniest dysplasia Occurrence False Congenital Inferred relationship Some
Sternum bifidum Occurrence False Congenital Inferred relationship Some
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Occurrence False Congenital Inferred relationship Some
Classical maple syrup urine disease Occurrence True Congenital Inferred relationship Some 1
Congenital syphilitic mucous patches Occurrence False Congenital Inferred relationship Some
Monocuspid cardiac valve Occurrence False Congenital Inferred relationship Some
Congenital pancreatic trypsin deficiency Occurrence False Congenital Inferred relationship Some
Congenital aneurysm of sinus of Valsalva Occurrence False Congenital Inferred relationship Some
Congenital cyst of canal of Nuck Occurrence False Congenital Inferred relationship Some
Hidrotic ectodermal dysplasia syndrome Occurrence False Congenital Inferred relationship Some
Congenital anomaly of cerebral artery Occurrence False Congenital Inferred relationship Some
Transposition of appendix Occurrence False Congenital Inferred relationship Some
Ichthyosis linearis circumflexa Occurrence False Congenital Inferred relationship Some
Congenital corneal opacity not interfering with vision Occurrence False Congenital Inferred relationship Some
Congenital fusion of ossicles of ear Occurrence False Congenital Inferred relationship Some
Peutz-Jeghers syndrome Occurrence False Congenital Inferred relationship Some
3 beta-Hydroxysteroid dehydrogenase deficiency Occurrence False Congenital Inferred relationship Some
Pancreas divisum Occurrence False Congenital Inferred relationship Some
Congenital hypertrophy of pylorus Occurrence False Congenital Inferred relationship Some
Osteogenesis imperfecta with progressive deformity AND normal sclerae Occurrence False Congenital Inferred relationship Some
Hereditary xanthinuria Occurrence False Congenital Inferred relationship Some
Uterus biforis Occurrence False Congenital Inferred relationship Some
Congenital hypoplasia of pulmonary artery (disorder) Occurrence False Congenital Inferred relationship Some
Mobile cecum Occurrence False Congenital Inferred relationship Some
Xanthoma planum of eyelid Occurrence False Congenital Inferred relationship Some
Synchilia (disorder) Occurrence False Congenital Inferred relationship Some
Ectopic gray matter in centrum ovale Occurrence False Congenital Inferred relationship Some
13p partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Dalmatian leukodystrophy Occurrence False Congenital Inferred relationship Some
Straight back syndrome Occurrence False Congenital Inferred relationship Some
Congenital structural abnormality of orbit proper (disorder) Occurrence False Congenital Inferred relationship Some
Multiple sulphatase deficiency Occurrence True Congenital Inferred relationship Some 1
Monster Occurrence False Congenital Inferred relationship Some
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids. Occurrence False Congenital Inferred relationship Some
Double kidney Occurrence False Congenital Inferred relationship Some
Hepatic porphyria Occurrence False Congenital Inferred relationship Some
Congenital anomaly of small intestine Occurrence False Congenital Inferred relationship Some
Dens in dente Occurrence False Congenital Inferred relationship Some
Infantile hypophosphatasia Occurrence True Congenital Inferred relationship Some 1
Congenital pseudoarthrosis of tibia (disorder) Occurrence False Congenital Inferred relationship Some
2p partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Congenital laryngeal stridor Occurrence False Congenital Inferred relationship Some
Cor triatriatum Occurrence False Congenital Inferred relationship Some
Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta Occurrence False Congenital Inferred relationship Some
Congenital malposition of kidney Occurrence False Congenital Inferred relationship Some
Anomalous origin of left circumflex artery from right coronary artery Occurrence False Congenital Inferred relationship Some
Nezelof's syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of testis (disorder) Occurrence False Congenital Inferred relationship Some
Congenital diverticulum of trachea Occurrence False Congenital Inferred relationship Some
Ethmocephalus Occurrence False Congenital Inferred relationship Some
Arthrochalasia Ehlers-Danlos syndrome (disorder) Occurrence False Congenital Inferred relationship Some
Unilateral agenesis of kidney Occurrence False Congenital Inferred relationship Some
Arylsulfatase deficiency without metachromatic leukodystrophy (disorder) Occurrence True Congenital Inferred relationship Some 1
Muscle L-lactate dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
Albinotic fundus Occurrence False Congenital Inferred relationship Some
Hay-Wells syndrome of ectodermal dysplasia Occurrence False Congenital Inferred relationship Some

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