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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
Anomalous origin of right subclavian artery Occurrence False Congenital Inferred relationship Some
Congenital epulis of newborn Occurrence False Congenital Inferred relationship Some
Congenital gingival granular cell tumor Occurrence False Congenital Inferred relationship Some
Congenital anomaly of trachea Occurrence False Congenital Inferred relationship Some
Congenital absence of upper limb Occurrence False Congenital Inferred relationship Some
Diplomyelia Occurrence False Congenital Inferred relationship Some 2
Vestigial remnants of canal of Cloquet Occurrence False Congenital Inferred relationship Some
Myeloschisis Occurrence True Congenital Inferred relationship Some 3
Microstomia Occurrence False Congenital Inferred relationship Some
Late-infantile neuronal ceroid lipofuscinosis Occurrence True Congenital Inferred relationship Some 2
Uterus cordiformis Occurrence False Congenital Inferred relationship Some
Gouty tophus of pinna (disorder) Occurrence False Congenital Inferred relationship Some
20q partial trisomy (disorder) Occurrence False Congenital Inferred relationship Some
Situs ambiguus Occurrence True Congenital Inferred relationship Some 1
Achondrogenesis, type IB Occurrence False Congenital Inferred relationship Some
Abdominal heart Occurrence False Congenital Inferred relationship Some
Congenital anomaly of large intestine Occurrence False Congenital Inferred relationship Some
Aarskog syndrome Occurrence False Congenital Inferred relationship Some
Excessively long umbilical cord Occurrence False Congenital Inferred relationship Some
Retinal dystrophy in systemic lipidosis Occurrence True Congenital Inferred relationship Some 2
Russell-Silver syndrome Occurrence False Congenital Inferred relationship Some
Congenital insufficiency of pulmonary valve Occurrence False Congenital Inferred relationship Some
Congenital stricture of bile duct (disorder) Occurrence False Congenital Inferred relationship Some
Congenital transposition of stomach Occurrence False Congenital Inferred relationship Some
A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe. Occurrence False Congenital Inferred relationship Some
Congenital phlebectasia Occurrence False Congenital Inferred relationship Some
Origin of innominate artery from left side of aortic arch Occurrence False Congenital Inferred relationship Some
Atrophia bulborum hereditaria Occurrence False Congenital Inferred relationship Some
Facial asymmetry Occurrence False Congenital Inferred relationship Some
Adenylosuccinate lyase deficiency Occurrence False Congenital Inferred relationship Some
Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency Occurrence False Congenital Inferred relationship Some 1
Familial hypoalphalipoproteinemia Occurrence True Congenital Inferred relationship Some 1
Double kidney AND/OR pelvis Occurrence False Congenital Inferred relationship Some
Female Kallman's syndrome Occurrence False Congenital Inferred relationship Some
Fetal malformation of central nervous system affecting obstetrical care Occurrence False Congenital Inferred relationship Some
Congenital pyloric membrane Occurrence False Congenital Inferred relationship Some
Omphalocele with obstruction Occurrence False Congenital Inferred relationship Some
Corectopia Occurrence False Congenital Inferred relationship Some
Congenital dislocation of knee with genu recurvatum Occurrence False Congenital Inferred relationship Some
Endocardial cushion defect Occurrence False Congenital Inferred relationship Some
Citrullinemia Occurrence False Congenital Inferred relationship Some
Congenital duplication of uterus Occurrence False Congenital Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Occurrence False Congenital Inferred relationship Some
First arch syndrome Occurrence False Congenital Inferred relationship Some
Congenital absence of lobe of lung Occurrence False Congenital Inferred relationship Some
Congenital small renal papilla Occurrence False Congenital Inferred relationship Some
Congenital hypoplasia of renal papilla (disorder) Occurrence False Congenital Inferred relationship Some
Encephalocele of orbit Occurrence False Congenital Inferred relationship Some
Congenital cleft thyroid cartilage Occurrence False Congenital Inferred relationship Some
Maxillary prognathism Occurrence False Congenital Inferred relationship Some
21q partial monosomy syndrome Occurrence False Congenital Inferred relationship Some
Congenital absence of vertebra Occurrence False Congenital Inferred relationship Some
Albinism Occurrence False Congenital Inferred relationship Some
Mucopolysaccharidosis, MPS-III-D Occurrence True Congenital Inferred relationship Some 1
Desmiognathus Occurrence False Congenital Inferred relationship Some
Glycogen storage disease, muscular form Occurrence True Congenital Inferred relationship Some 1
Severe steroid 21-hydroxylase deficiency Occurrence False Congenital Inferred relationship Some
Premature tooth eruption Occurrence False Congenital Inferred relationship Some
Congenital cerebellar hypoplasia Occurrence False Congenital Inferred relationship Some
Imperforate vagina Occurrence False Congenital Inferred relationship Some
Congenital generalized flexion contractures of lower limb joints Occurrence False Congenital Inferred relationship Some
Heterodymus Occurrence False Congenital Inferred relationship Some
10q partial monosomy (disorder) Occurrence False Congenital Inferred relationship Some
Hereditary orotic aciduria Occurrence False Congenital Inferred relationship Some
A rare metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). This condition usually presents in early childhood and the manifestations are variable. The disease is caused by mutations in the malonyl-CoA decarboxylase gene (MLYCD, chromosome 16q24) and is inherited as an autosomal recessive trait. The MCD enzyme is involved in the degradation of malonyl-CoA and it appears that inhibition of fatty acid synthesis as a result of malonyl-CoA accumulation is responsible for at least some of the clinical manifestations of the disorder. Occurrence True Congenital Inferred relationship Some 1
Malonyl-CoA decarboxylase deficiency Occurrence False Congenital Inferred relationship Some
Congenital hydronephrosis Occurrence False Congenital Inferred relationship Some
Congenital absence of pelvis and lower limb Occurrence False Congenital Inferred relationship Some
membre inférieur et pelvis absents Occurrence False Congenital Inferred relationship Some
Coronary artery abnormality Occurrence False Congenital Inferred relationship Some
Congenital duodenal stenosis (disorder) Occurrence False Congenital Inferred relationship Some
Cranial hydromeningocele Occurrence False Congenital Inferred relationship Some
Ectopic kidney Occurrence False Congenital Inferred relationship Some
Congenital absence of membranous labyrinth Occurrence False Congenital Inferred relationship Some
Cerebral lipidosis Occurrence True Congenital Inferred relationship Some 1
Mesocardia Occurrence False Congenital Inferred relationship Some
Anomaly of chromosome pair 15 Occurrence False Congenital Inferred relationship Some
Congenital spade-like hand Occurrence False Congenital Inferred relationship Some
Talipomanus Occurrence False Congenital Inferred relationship Some
Congenital occlusion of ureter Occurrence False Congenital Inferred relationship Some
Fabry's disease Occurrence True Congenital Inferred relationship Some 2
Amino acid transport disorder Occurrence False Congenital Inferred relationship Some
Hyperuricuria Occurrence False Congenital Inferred relationship Some
Transitory amino acid metabolic disorder Occurrence False Congenital Inferred relationship Some
Longitudinal deficiency of humerus Occurrence False Congenital Inferred relationship Some
Incomplete congenital absence of thigh AND leg Occurrence False Congenital Inferred relationship Some
Complete bilateral cleft palate with cleft lip Occurrence False Congenital Inferred relationship Some
Accessory lobe of lung Occurrence False Congenital Inferred relationship Some
Paravaginal cyst arising in mesonephric duct Occurrence False Congenital Inferred relationship Some
Congenital cerebellar cortical atrophy Occurrence False Congenital Inferred relationship Some
Congenital arteriovenous fistula of kidney Occurrence False Congenital Inferred relationship Some
Anodontie Occurrence False Congenital Inferred relationship Some
Congenital stenosis of external auditory canal Occurrence False Congenital Inferred relationship Some
Congenital aneurysm of aorta Occurrence False Congenital Inferred relationship Some
Lip hypertrophy Occurrence False Congenital Inferred relationship Some
Congenital absence of leg with foot AND toes Occurrence False Congenital Inferred relationship Some
Aortopulmonary window Occurrence False Congenital Inferred relationship Some
Vascular Ehlers-Danlos syndrome Occurrence False Congenital Inferred relationship Some
4p partial monosomy syndrome Occurrence False Congenital Inferred relationship Some
Congenital eventration of diaphragm Occurrence False Congenital Inferred relationship Some
Congenital absence of uterus Occurrence False Congenital Inferred relationship Some

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