254245008: Congenital malformation syndrome due to known exogenous cause (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378475012 Congenital malformation syndrome due to known exogenous cause en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

645109012 Congenital malformation syndrome due to known exogenous cause (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital malformation syndrome due to known exogenous cause	Is a	Congenital malformation syndromes due to known exogenous causes	false	Inferred relationship	Some
Congenital malformation syndrome due to known exogenous cause	Occurrence	Congenital	false	Inferred relationship	Some
Congenital malformation syndrome due to known exogenous cause	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Congenital malformation syndrome due to known exogenous cause	Is a	Congenital malformation syndrome (disorder)	false	Inferred relationship	Some
Congenital malformation syndrome due to known exogenous cause	Occurrence	Congenital	false	Inferred relationship	Some	1
Congenital malformation syndrome due to known exogenous cause	Associated morphology	anomalie du développement	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
[X]Other congenital malformation syndromes due to known exogenous causes	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
Congenital malformation caused by cytotoxic agents (disorder)	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
Fetal benzodiazepine syndrome	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
Fetal captopril/enalapril syndrome	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
Fetal carbamazepine syndrome	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
Fetal cocaine syndrome (disorder)	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
Fetal minoxidil syndrome	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
Fetal misoprostol syndrome	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
Fetal primidone syndrome	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
Fetal toluene syndrome	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
Fetal valproate syndrome	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
Thalidomide embryopathy syndrome	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
embryopathie causée par l'acide rétinoïque	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
Fetal warfarin syndrome	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
Fetal methyl mercury syndrome	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
Fetal trimethadione syndrome	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
Fetal hydantoin syndrome	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
fœtus ou nouveau-né affecté par l'usage maternel d'alcool	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
fœtus ou nouveau-né affecté par le transfert placentaire ou mammaire d'alcool	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
A teratologic disorder associated with intrauterine exposure of phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitis in preterm infants.	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation.	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
A teratogenic embryofetopathy that results from maternal exposure to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia.	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some
A rare teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.	Is a	False	Congenital malformation syndrome due to known exogenous cause	Inferred relationship	Some

Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
378475012	Congenital malformation syndrome due to known exogenous cause	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645109012	Congenital malformation syndrome due to known exogenous cause (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core