400038003: Congenital malformation syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital malformation syndrome (disorder)	Is a	Congenital malformation	true	Inferred relationship	Some
Congenital malformation syndrome (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Congenital malformation syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital malformation syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital malformation syndrome (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Some	1
Congenital malformation syndrome (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital malformation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital malformation syndromes due to known exogenous causes	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Klippel's disease	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Multiple system malformation syndrome	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Congenital malformation syndromes affecting facial appearance	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Congenital malformation syndromes associated with short stature	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Congenital malformation syndromes involving limbs	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Congenital malformation syndromes with metabolic disturbances	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Biemond's syndrome	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Ullrich-Feichtiger syndrome, chimera	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Congenital malformation syndromes with other skeletal changes	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Congenital malformation syndrome due to known exogenous cause	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Aplasia cutis congenita due to underlying malformation (Type 4) (disorder)	Due to	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some	2
Aplasia cutis congenita secondary to malformation syndrome (Type 9) (disorder)	Associated with	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some	2
Oculocerebrocutaneous syndrome (disorder)	Associated with	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some	2
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Facial milia, lobate tongue, lingual and labial frenula syndrome (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Malformation sequence	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Acrocephalosyndactyly	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Malformation defect spectrum	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Cleft palate lateral synechia syndrome	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Bitemporal scars with abnormal eyelashes	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Cardio-acral-facial syndrome (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Malformation association	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Cardio-facio-cutaneous syndrome (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Multiple congenital anomalies of fetus	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Carpenter's syndrome	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
First and second branchial arch syndrome	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females.	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
X-linked mental retardation, Miles-Carpenter type is characterized by severe intellectual deficit, microcephaly, exotropia and low digital arches.	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
X-linked intellectual disability, Armfield type is characterized by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Family history of multiple congenital anomalies (situation)	Associated finding	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some	1
Gorlin-Chaudhry-Moss syndrome	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal misoprostol syndrome	Is a	False	Congenital malformation syndrome (disorder)	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 (disorder)	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	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
fœtus ou nouveau-né affecté par le transfert placentaire ou mammaire d'alcool	Is a	False	Congenital malformation syndrome (disorder)	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	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal hydantoin syndrome	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal toluene syndrome	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Congenital malformation caused by cytotoxic agents (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
fœtus ou nouveau-né affecté par l'usage maternel d'alcool	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal captopril/enalapril syndrome	Is a	False	Congenital malformation syndrome (disorder)	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	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal carbamazepine syndrome	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal cocaine syndrome (disorder)	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal benzodiazepine syndrome	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal minoxidil syndrome	Is a	False	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Fetal primidone syndrome	Is a	False	Congenital malformation syndrome (disorder)	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	True	Congenital malformation syndrome (disorder)	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 (disorder)	Inferred relationship	Some
A rare syndromic chorioretinal dystrophy characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ectopia pupillae and retinal detachment.	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Amegakaryocytic thrombocytopenia with congenital malformation	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Facio-auriculo-vertebral spectrum (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates.	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
A rare disorder of pentose phosphate metabolism characterized by developmental delay and intellectual disability, delayed or absent speech, short stature, and congenital heart defects (such as ventricular septal defect, atrial septal defect, and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment, and variable facial dysmorphism, among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol, and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate).	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Madelung's deformity (disorder)	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
Mesomelic dysplasia	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some
A rare genetic disorder involving multiple structures of the eye. The disease is characterised by a combination of congenital aphakia and pan ocular anomalies including iris hypoplasia, microphthalmia, and microcornea. Other ophthalmological features may include nystagmus, glaucoma, strabismus, congenital leukocoria, anterior persistent fetal vasculature and posterior segment anomalies (e.g. optic nerve and foveal hypoplasia, intravitreous haemorrhages). No extraocular manifestations are observed.	Is a	True	Congenital malformation syndrome (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1767958011	Congenital malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1779310019	Congenital malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3005370015	Multiple congenital malformations	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006547017	Multiple congenital anomalies	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1844181000195110	sindrome malformativa congenita	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3393634012	syndrome congénital malformatif	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
471671000172116	syndrome de malformation congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module