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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
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. Occurrence True Congenital Inferred relationship Some 1
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. Occurrence True Congenital Inferred relationship Some 3
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. Occurrence True Congenital Inferred relationship Some 2
Congenital pulmonary arteriovenous aneurysm Occurrence True Congenital Inferred relationship Some 1
Congenital leukonychia Occurrence True Congenital Inferred relationship Some 1
Aortic left ventricular tunnel with right coronary artery from tunnel (disorder) Occurrence True Congenital Inferred relationship Some 1
Acromelanosis (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare primary bone dysplasia characterized by costovertebral ossification defects with small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent dysmorphic craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most common extraosseous manifestations are renal abnormalities such as multicystic kidneys. The disease is usually perinatally lethal due to respiratory insufficiency. Occurrence True Congenital Inferred relationship Some 1
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. Occurrence True Congenital Inferred relationship Some 2
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. Occurrence True Congenital Inferred relationship Some 1
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. Occurrence True Congenital Inferred relationship Some 4
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. Occurrence True Congenital Inferred relationship Some 3
syndrome de nanisme ostéochondrodysplasique-surdité-rétinopathie pigmentaire Occurrence False Congenital Inferred relationship Some 1
syndrome de nanisme ostéochondrodysplasique-surdité-rétinopathie pigmentaire Occurrence False Congenital Inferred relationship Some 2
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords to papillary muscle on right ventricular side septum (disorder) Occurrence True Congenital Inferred relationship Some 1
Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988. Occurrence True Congenital Inferred relationship Some 1
Roberts-SC phocomelia syndrome Occurrence True Congenital Inferred relationship Some 1
Anterior imbrication of teeth Occurrence False Congenital Inferred relationship Some 1
Right superior vena cava connecting to left atrium and right atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995. Occurrence True Congenital Inferred relationship Some 1
Thoracic spina bifida with hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 1
Hyperplastic tooth follicle Occurrence False Congenital Inferred relationship Some 1
Hyperplastic tooth follicle Occurrence False Congenital Inferred relationship Some 2
Disorganised development of cartilaginous and fibrous components of the skeleton Occurrence True Congenital Inferred relationship Some 1
Uterus bicornuatus vetularum Occurrence True Congenital Inferred relationship Some 1
Kniest-Stickler dysplasia group Occurrence False Congenital Inferred relationship Some 1
Multiple congenital articular rigidities Occurrence False Congenital Inferred relationship Some 1
Simple syndactyly of toes of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Some 1
Radial polydactyly Wassel 6 Occurrence False Congenital Inferred relationship Some 1
Interrupted aortic arch between left subclavian and left common carotid artery Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of atrioventricular valves in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Septate vagina affecting pregnancy Occurrence True Congenital Inferred relationship Some 1
Polydactyly of thumb Occurrence False Congenital Inferred relationship Some 1
Ectodermal dysplasia-ocular malformation syndrome Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex, Ogna type (disorder) Occurrence True Congenital Inferred relationship Some 1
Lingual thyroid Occurrence True Congenital Inferred relationship Some 1
Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short, webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin siblings born to consanguineous parents. Occurrence True Congenital Inferred relationship Some 1
Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short, webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin siblings born to consanguineous parents. Occurrence True Congenital Inferred relationship Some 2
Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two siblings born to first cousin parents. Transmission appears to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 2
Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two siblings born to first cousin parents. Transmission appears to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 1
Neurocutaneous melanosis sequence Occurrence False Congenital Inferred relationship Some 1
Isolation of left subclavian artery (disorder) Occurrence False Congenital Inferred relationship Some 2
Ectopic liver Occurrence True Congenital Inferred relationship Some 1
Holoprosencephaly craniosynostosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Acrocephalosyndactyly type I Occurrence True Congenital Inferred relationship Some 1
Acrocephalosyndactyly type I Occurrence True Congenital Inferred relationship Some 2
MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype. Occurrence True Congenital Inferred relationship Some 1
MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype. Occurrence True Congenital Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature and particularly pronounced shortening of the third to fifth metacarpals and metatarsals, congenital anodontia, sparse hair, dyspigmentation of the skin, hypoplastic nipples and underdeveloped external genitals in females, and multiple ocular abnormalities (such as distichiasis, strabismus, nystagmus, lenticular opacities, and severe myopia, among others). Dysmorphic craniofacial features include brachycephaly, downslanting palpebral fissures, broad nasal root, low-set ears, and small maxilla and prominent mandible. There have been no further descriptions in the literature since 1968. Occurrence True Congenital Inferred relationship Some 1
Adult fucosidosis (disorder) Occurrence False Congenital Inferred relationship Some 1
Notomelus Occurrence True Congenital Inferred relationship Some 1
Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 siblings so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities. Occurrence True Congenital Inferred relationship Some 1
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. Occurrence True Congenital Inferred relationship Some 2
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. Occurrence True Congenital Inferred relationship Some 3
A rare ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. Occurrence True Congenital Inferred relationship Some 2
A rare ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. Occurrence True Congenital Inferred relationship Some 3
A rare syndromic, genetic cataract characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a decreased corneal diameter (inferior to 10 mm) in both meridians in an otherwise normal eye, and an inherited cataract, which is mostly bilateral posterior polar with opacification in the lens periphery that progresses to form a total cataract after visual maturity has been achieved. Association with other ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly may be observed. Occurrence True Congenital Inferred relationship Some 1
Fusion of crown of teeth Occurrence False Congenital Inferred relationship Some 1
Congenital coronary artery fistula to left atrium Occurrence True Congenital Inferred relationship Some 1
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) Occurrence False Congenital Inferred relationship Some 1
Patent ductus arteriosus - delayed closure (disorder) Occurrence True Congenital Inferred relationship Some 1
Leri's pleonosteosis syndrome Occurrence True Congenital Inferred relationship Some 1
Ichthyosis congenita with biliary atresia Occurrence True Congenital Inferred relationship Some 1
A rare congenital acrofacial dysostosis characterized by mild intrauterine growth retardation, postnatal short stature, microcephaly, intellectual disability, moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning, microretrognathia, and malar hypoplasia), and mild pre- and postaxial limb hypoplasia with generalized brachydactyly, mild interdigital webbing, single transverse palmar creases and clinodactyly. Reported facial features include high forehead, widow's peak, downslanted palpebral fissures, sparse lateral eyebrows, and small or dysplastic ears. Variably associated features include frequent caries, preauricular fistulae, inguinal hernia, spina bifida occulta, and cryptorchidism and hypospadias in males. Occurrence True Congenital Inferred relationship Some 1
Laryngeal cleft type I Occurrence True Congenital Inferred relationship Some 1
Urachal diverticulum Occurrence True Congenital Inferred relationship Some 1
A rare spondylodysplastic syndrome characterized by camptodactyly, cervical platyspondyly, and variable degrees of thoracic scoliosis. There have been no further descriptions in the literature since 1995. Occurrence True Congenital Inferred relationship Some 1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital corneal opacity not interfering with vision Occurrence True Congenital Inferred relationship Some 1
Anomalous pulmonary venous drainage to right atrium Occurrence True Congenital Inferred relationship Some 2
Radioulnar synostosis Occurrence False Congenital Inferred relationship Some 1
Hypoplasia of right ventricular inflow tract (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypospadias, hypertelorism, coloboma, deafness syndrome Occurrence False Congenital Inferred relationship Some 1
Hypospadias, hypertelorism, coloboma, deafness syndrome Occurrence False Congenital Inferred relationship Some 3
Hypospadias, hypertelorism, coloboma, deafness syndrome Occurrence False Congenital Inferred relationship Some 2
Absent ductus venosus with direct connection of umbilical vein to renal vein (disorder) Occurrence True Congenital Inferred relationship Some 3
Absent ductus venosus with direct connection of umbilical vein to renal vein (disorder) Occurrence True Congenital Inferred relationship Some 2
Absent ductus venosus with direct connection of umbilical vein to renal vein (disorder) Occurrence True Congenital Inferred relationship Some 1
Dominant dystrophic epidermolysis bullosa with absence of skin Occurrence True Congenital Inferred relationship Some 2
Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF). Occurrence True Congenital Inferred relationship Some 1
High assimilation pelvis Occurrence True Congenital Inferred relationship Some 1
Congenital trigger thumb of bilateral hands Occurrence False Congenital Inferred relationship Some 1
Aorta to right ventricle tunnel Occurrence True Congenital Inferred relationship Some 1
A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal. Occurrence True Congenital Inferred relationship Some 1
A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal. Occurrence True Congenital Inferred relationship Some 2
Persistent Gartner's duct Occurrence False Congenital Inferred relationship Some 2
Melanosis oculi (disorder) Occurrence True Congenital Inferred relationship Some 1
Complete cleft hard and soft palate Occurrence True Congenital Inferred relationship Some 2
Atrioventricular septal defect with ventricular component under free floating superior bridging leaflet and chords to papillary muscle at right ventricular free wall (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. Occurrence True Congenital Inferred relationship Some 1
A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive. Occurrence True Congenital Inferred relationship Some 1
Congenital retraction of nipple Occurrence True Congenital Inferred relationship Some 1
Aortic valve overriding ventricular septum (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. Occurrence True Congenital Inferred relationship Some 1
A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. Occurrence True Congenital Inferred relationship Some 2
Lumbar spina bifida with hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 1
Persisting fifth aortic arch with double barrell arch (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant epidermolysis bullosa simplex (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital diaphragmatic hernia Occurrence True Congenital Inferred relationship Some 2
Cutis laxa, autosomal dominant Occurrence True Congenital Inferred relationship Some 1
Paravaginal cyst arising in mesonephric duct Occurrence True Congenital Inferred relationship Some 1

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