255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Fetal and/or neonatal period\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

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

Descriptions:

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 (disorder)	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	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	Occurrence	False	Congenital	Inferred relationship	Some
Congenital transposition of stomach	Occurrence	False	Congenital	Inferred relationship	Some
A rare X-linked syndromic intellectual disability with characteristics of 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. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes.	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 (disorder)	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-CoA-carboxylase) ligase-mangel	Occurrence	False	Congenital	Inferred relationship	Some	1
Familial hypoalphalipoproteinaemia	Occurrence	True	Congenital	Inferred relationship	Some	1
Dobbelt nyre OG/ELLER bækken	Occurrence	False	Congenital	Inferred relationship	Some
Kallmans syndrom hos kvinde	Occurrence	False	Congenital	Inferred relationship	Some
Central nervous system malformation in fetus affecting obstetrical care (disorder)	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 (disorder)	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	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
Manglende pelvis og underekstremitet	Occurrence	False	Congenital	Inferred relationship	Some
Coronary artery abnormality	Occurrence	False	Congenital	Inferred relationship	Some
Congenital duodenal stenosis	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 (disorder)	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
Anodonti i blivende tænder og primære tænder	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
Læbehypertrofi	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit manglende ben inklusive fod OG tæer	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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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
2235951000005117	kongenit	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)