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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
Lutembacher's syndrome Occurrence True Congenital Inferred relationship Some 2
Persistent ostium secundum Occurrence True Congenital Inferred relationship Some 1
Bronchopulmonary collateral artery Occurrence True Congenital Inferred relationship Some 1
Cerebral-retinal arteriovenous aneurysm (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy. Occurrence True Congenital Inferred relationship Some 1
A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy. Occurrence True Congenital Inferred relationship Some 3
A rare genetic developmental defect during embryogenesis characterized by the association of the classic features of Joubert syndrome (congenital midbrain-hindbrain malformations causing hypotonia, abnormal breathing and eye movements, ataxia and cognitive impairment) together with the skeletal anomalies of Jeune asphyxiating thoracic dystrophy (short ribs, long and narrow thorax causing respiratory failure, short-limbs, short stature, and polydactyly). Additional variable manifestations include cystic kidneys, liver fibrosis, and retinal dystrophy. Occurrence True Congenital Inferred relationship Some 2
Hypoplasia of left ventricular inflow tract Occurrence True Congenital Inferred relationship Some 1
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) Occurrence True Congenital Inferred relationship Some 1
Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. Occurrence True Congenital Inferred relationship Some 1
Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. Occurrence True Congenital Inferred relationship Some 2
Incomplete ossification of presphenoid bone Occurrence True Congenital Inferred relationship Some 1
Interrupted left inferior vena cava (disorder) Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta with normal sclerae, dominant form Occurrence True Congenital Inferred relationship Some 1
A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy. Occurrence True Congenital Inferred relationship Some 1
Temporal encephalocele Occurrence True Congenital Inferred relationship Some 2
Eccentric opening of aortic valve Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction due to fibromuscular tunnel (disorder) Occurrence False Congenital Inferred relationship Some 1
Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability. Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of basioccipital bone Occurrence True Congenital Inferred relationship Some 1
Left inferior vena cava connecting to left atrium and right atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
Lethal autosomal recessive epidermolysis bullosa simplex Occurrence True Congenital Inferred relationship Some 1
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. Occurrence True Congenital Inferred relationship Some 4
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. Occurrence True Congenital Inferred relationship Some 3
Diastrophic dysplasia Occurrence True Congenital Inferred relationship Some 1
Multiple epiphyseal dysplasia tarda type IIIa Occurrence False Congenital Inferred relationship Some 1
A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant hypophosphatemic rickets Occurrence True Congenital Inferred relationship Some 1
Female infertility due to structural congenital anomaly of cervix Occurrence True Congenital Inferred relationship Some 1
Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. Occurrence True Congenital Inferred relationship Some 1
Ehlers-Danlos syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Common truncus arteriosus (disorder) Occurrence True Congenital Inferred relationship Some 1
Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10. Occurrence True Congenital Inferred relationship Some 2
Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10. Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. Occurrence True Congenital Inferred relationship Some 1
Right ventricular outflow tract obstruction due to abnormal cardiac muscle bands (disorder) Occurrence False Congenital Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported. Occurrence True Congenital Inferred relationship Some 3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported. Occurrence True Congenital Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported. Occurrence True Congenital Inferred relationship Some 1
Eccentric opening of tricuspid aortic valve (disorder) Occurrence True Congenital Inferred relationship Some 1
Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. Occurrence True Congenital Inferred relationship Some 1
Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). Occurrence True Congenital Inferred relationship Some 1
Nemaline myopathy, late onset type Occurrence False Congenital Inferred relationship Some 1
Menkes kinky-hair syndrome Occurrence True Congenital Inferred relationship Some 1
A rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997. Occurrence True Congenital Inferred relationship Some 1
Eichsfeld type congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Aniridia type 2 (disorder) Occurrence True Congenital Inferred relationship Some 1
FG syndrome Occurrence True Congenital Inferred relationship Some 1
Lumbar hemivertebra - unbalanced Occurrence True Congenital Inferred relationship Some 1
Congenital anourethral fistula Occurrence True Congenital Inferred relationship Some 1
Congenital pyloric antral membrane Occurrence True Congenital Inferred relationship Some 1
Right ventricular outflow tract abnormality Occurrence True Congenital Inferred relationship Some 1
Simple ureterocele Occurrence True Congenital Inferred relationship Some 2
Doubling of uterus with doubling of cervix and vagina Occurrence True Congenital Inferred relationship Some 1
Double renal pelvis Occurrence True Congenital Inferred relationship Some 1
Developmental ovarian cyst Occurrence False Congenital Inferred relationship Some 1
Osteogenesis imperfecta, type IV A Occurrence True Congenital Inferred relationship Some 1
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. Occurrence True Congenital Inferred relationship Some 1
Chondrodysplasia Occurrence True Congenital Inferred relationship Some 1
Persistent tunica vasculosa lentis Occurrence True Congenital Inferred relationship Some 2
Persistent tunica vasculosa lentis Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex characterized by generalized superficial erosions and less commonly blistering. Occurrence True Congenital Inferred relationship Some 1
Epidermolysis simplex superficialis Occurrence True Congenital Inferred relationship Some 1
Dubin-Johnson syndrome Occurrence True Congenital Inferred relationship Some 1
Nodular renal blastema Occurrence True Congenital Inferred relationship Some 1
A rare, genetic congenital malformation syndrome characterized by bilateral anophthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed. Occurrence True Congenital Inferred relationship Some 1
Congenital pulmonary lymphangiectasis Occurrence True Congenital Inferred relationship Some 1
Abnormal connection of hepatic vein to atrium Occurrence True Congenital Inferred relationship Some 1
Enamel spur Occurrence False Congenital Inferred relationship Some 1
Total congenital alopecia Occurrence False Congenital Inferred relationship Some 1
A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. Occurrence True Congenital Inferred relationship Some 1
Winchester syndrome Occurrence True Congenital Inferred relationship Some 1
Frontoethmoidal encephalocele Occurrence True Congenital Inferred relationship Some 1
Hutchinson's triad Occurrence True Congenital Inferred relationship Some 2
Hereditary neurocutaneous angiomata (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal penile hypospadias Occurrence True Congenital Inferred relationship Some 1
A very rare, genetic, congenital limb malformation syndrome characterized by duplication of the fibula associated with pre-axial mirror polydactyly of the foot, that may occur as an isolated malformation or be associated with other anomalies, including ulnar dimelia, facial abnormalities and sacrococcygeal teratoma. Occurrence True Congenital Inferred relationship Some 1
Ulbright-Hodes syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a Potter-like facies. The syndrome has been described in three infants (one pair of siblings and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 1
Ulbright-Hodes syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a Potter-like facies. The syndrome has been described in three infants (one pair of siblings and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 2
Congenital bilateral internal tibial torsion Occurrence True Congenital Inferred relationship Some 1
Congenital bilateral internal tibial torsion Occurrence True Congenital Inferred relationship Some 2
Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit. Occurrence True Congenital Inferred relationship Some 1
Cleft hard and soft palate with right cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 2
Cleft hard and soft palate with right cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 1
Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait. Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction due to malaligned outlet septum (disorder) Occurrence False Congenital Inferred relationship Some 1
Right ventricular muscular infundibular stenosis Occurrence True Congenital Inferred relationship Some 1
Completely unroofed coronary sinus defect in left atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive. Occurrence True Congenital Inferred relationship Some 1
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive. Occurrence True Congenital Inferred relationship Some 2
Junctional epidermolysis bullosa non-Herlitz type (disorder) Occurrence True Congenital Inferred relationship Some 1
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. Occurrence True Congenital Inferred relationship Some 1
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. Occurrence True Congenital Inferred relationship Some 2
Atelosteogenesis/diastrophic dysplasia Occurrence False Congenital Inferred relationship Some 1
Rhizomelic chondrodysplasia punctata syndrome Occurrence True Congenital Inferred relationship Some 2
Rhizomelic chondrodysplasia punctata syndrome Occurrence True Congenital Inferred relationship Some 1
hypoplasie préductale de l'aorte Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuro-pituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported. Occurrence True Congenital Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuro-pituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported. Occurrence True Congenital Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuro-pituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported. Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia with hair-nail defect Occurrence True Congenital Inferred relationship Some 1

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