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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
Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. Occurrence True Congenital Inferred relationship Some 1
Systemic to pulmonary collateral artery from coronary artery Occurrence True Congenital Inferred relationship Some 2
Systemic to pulmonary collateral artery from coronary artery Occurrence False Congenital Inferred relationship Some 3
A rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies. Occurrence True Congenital Inferred relationship Some 1
Absent ductus venosus (disorder) Occurrence True Congenital Inferred relationship Some 1
A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. Occurrence True Congenital Inferred relationship Some 2
A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. Occurrence True Congenital Inferred relationship Some 1
A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. Occurrence True Congenital Inferred relationship Some 4
Bilateral congenital absence of ovary (disorder) Occurrence True Congenital Inferred relationship Some 1
Localised dystrophic epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Congenital hydrocephalus caused by toxoplasmosis Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa pruriginosa (disorder) Occurrence True Congenital Inferred relationship Some 1
Immature ganglionosis of large intestine (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital coronary artery fistula to left ventricle Occurrence True Congenital Inferred relationship Some 1
Double ureter Occurrence True Congenital Inferred relationship Some 1
A rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981. Occurrence True Congenital Inferred relationship Some 3
A rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981. Occurrence True Congenital Inferred relationship Some 1
A rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981. Occurrence True Congenital Inferred relationship Some 2
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. Occurrence True Congenital Inferred relationship Some 3
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. Occurrence True Congenital Inferred relationship Some 1
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. Occurrence True Congenital Inferred relationship Some 2
Congenital club finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital generalised alopecia Occurrence True Congenital Inferred relationship Some 1
Lower moiety ureter of duplex kidney Occurrence True Congenital Inferred relationship Some 1
Vascular ring with right aortic arch and right patent arterial duct with absent left pulmonary artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Persistent pupillary membranes Occurrence True Congenital Inferred relationship Some 1
Macrodontia Occurrence False Congenital Inferred relationship Some 1
Right ventricular outflow tract obstruction due to atrioventricular valve (disorder) Occurrence False Congenital Inferred relationship Some 1
Neurofibromatosis syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital complete fusion of spine Occurrence True Congenital Inferred relationship Some 1
Synotus Occurrence True Congenital Inferred relationship Some 1
Right ventricular outflow obstruction - tubular Occurrence False Congenital Inferred relationship Some 1
Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Solitary aortic trunk with pulmonary atresia Occurrence True Congenital Inferred relationship Some 1
Pili torti Occurrence True Congenital Inferred relationship Some 1
Dumbbell ossification of centrum of lumbar vertebra Occurrence True Congenital Inferred relationship Some 1
A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy. Occurrence True Congenital Inferred relationship Some 1
A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy. Occurrence True Congenital Inferred relationship Some 2
A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy. Occurrence True Congenital Inferred relationship Some 3
Incomplete ossification of basisphenoid bone Occurrence True Congenital Inferred relationship Some 1
Segmental uterine aplasia Occurrence True Congenital Inferred relationship Some 1
Hypochondroplasia Occurrence True Congenital Inferred relationship Some 1
Cystic leukoencephalopathy without megalencephaly is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive. Occurrence True Congenital Inferred relationship Some 1
Congenital athetosis Occurrence True Congenital Inferred relationship Some 1
A rare form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder. Occurrence True Congenital Inferred relationship Some 1
Opsismodysplasia Occurrence True Congenital Inferred relationship Some 1
Muscular ventricular septal defect in apical trabecular septum Occurrence True Congenital Inferred relationship Some 1
Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. Occurrence True Congenital Inferred relationship Some 1
Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. Occurrence True Congenital Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, psychomotor retardation, flat face and some features resembling Marfan syndrome, such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, and muscle hypotonia. There have been no further descriptions in the literature since 1984. Occurrence True Congenital Inferred relationship Some 1
X-linked dominant chondrodysplasia punctata of Happle Occurrence False Congenital Inferred relationship Some 1
Nasopharyngeal encephalocele Occurrence True Congenital Inferred relationship Some 2
Xq28-Duplikationssyndrom, proximales Occurrence False Congenital Inferred relationship Some 1
Sturge-Weber syndrome Occurrence True Congenital Inferred relationship Some 2
Sturge-Weber syndrome Occurrence True Congenital Inferred relationship Some 1
A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. Occurrence True Congenital Inferred relationship Some 1
An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. Occurrence True Congenital Inferred relationship Some 2
An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. Occurrence True Congenital Inferred relationship Some 1
Genetic disorder of surfactant dysfunction Occurrence False Congenital Inferred relationship Some 1
Partial hypoplasia of optic disc Occurrence True Congenital Inferred relationship Some 1
Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of scapula Occurrence True Congenital Inferred relationship Some 1
A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia. Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with ventricular component and shunting under connecting tongue with separate orifices (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency. Occurrence True Congenital Inferred relationship Some 1
A rare form of Ehlers-Danlos syndrome (EDS) characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and severe, progressive cardiac valvular defects comprising mitral and/or aortic valve insufficiency. Occurrence True Congenital Inferred relationship Some 2
Congenital stricture of rectum with fistula Occurrence True Congenital Inferred relationship Some 1
Congenital malformation of uterus and cervix Occurrence True Congenital Inferred relationship Some 1
Congenital bent nose (disorder) Occurrence True Congenital Inferred relationship Some 1
Cervical myelocystocele Occurrence True Congenital Inferred relationship Some 2
Aortic left ventricular tunnel Occurrence True Congenital Inferred relationship Some 1
Localised recessive dystrophic epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
A rare, inherited, epidermolysis bullosa simplex characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. Onset of the disease is usually at birth. Occurrence True Congenital Inferred relationship Some 1
Pyle metaphyseal dysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital hypoganglionosis of large intestine (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoganglionosis of large intestine (disorder) Occurrence True Congenital Inferred relationship Some 2
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. Occurrence True Congenital Inferred relationship Some 1
Bilateral complete cleft palate with cleft lip Occurrence True Congenital Inferred relationship Some 2
Bilateral complete cleft palate with cleft lip Occurrence True Congenital Inferred relationship Some 1
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Occurrence True Congenital Inferred relationship Some 1
Congenital lateral curvature of penis Occurrence False Congenital Inferred relationship Some 1
Congenital vascular anomaly of eyelid (disorder) Occurrence True Congenital Inferred relationship Some 1
Proximal radioulnar synostosis Occurrence False Congenital Inferred relationship Some 1
Right ventricular outflow tract obstruction due to fibromuscular shelf (disorder) Occurrence False Congenital Inferred relationship Some 1
Atresia of pulmonary trunk with absent left pulmonary artery (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare syndromic intestinal malformation characterized by ulcer formation in the umbilical cord associated with congenital upper-intestinal atresia, typically presenting with intra-uterine hemorrhaging from the ulcer site and subsequent fetal bradycardia. Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital primary hydronephrosis (disorder) Occurrence True Congenital Inferred relationship Some 1
syndrome de Schoef-Schulz-Passage Occurrence False Congenital Inferred relationship Some 1
A rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation. Occurrence True Congenital Inferred relationship Some 1
Congenital fistulae between uterus and digestive and urinary tracts Occurrence True Congenital Inferred relationship Some 1
Congenital fistulae between uterus and digestive and urinary tracts Occurrence True Congenital Inferred relationship Some 2
Ballard syndrome has characteristics of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. The syndrome has been described in 12 members from four generations of one family. Transmission appears to be autosomal dominant. Occurrence True Congenital Inferred relationship Some 1
Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant. Occurrence True Congenital Inferred relationship Some 1
Inherited cutis laxa Occurrence True Congenital Inferred relationship Some 1
I-cell disease Occurrence True Congenital Inferred relationship Some 1
A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. Occurrence True Congenital Inferred relationship Some 1
Coronary artery arising from main pulmonary artery Occurrence True Congenital Inferred relationship Some 1
Type IV short rib polydactyly syndrome Occurrence True Congenital Inferred relationship Some 1
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. Occurrence True Congenital Inferred relationship Some 1
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. Occurrence True Congenital Inferred relationship Some 2
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. Occurrence True Congenital Inferred relationship Some 3

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