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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
A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails. Occurrence True Congenital Inferred relationship Some 2
A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails. Occurrence True Congenital Inferred relationship Some 1
A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails. Occurrence False Congenital Inferred relationship Some 4
Hallermann-Streiff syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital obstructive megaureter (disorder) Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of arch of sacral vertebra Occurrence True Congenital Inferred relationship Some 1
Namaqualand hip dysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of trachea due to complete rings (disorder) Occurrence False Congenital Inferred relationship Some 1
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989. Occurrence True Congenital Inferred relationship Some 1
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989. Occurrence True Congenital Inferred relationship Some 2
Scrotal hypospadias Occurrence True Congenital Inferred relationship Some 1
Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986. Occurrence True Congenital Inferred relationship Some 1
Radial polydactyly Occurrence True Congenital Inferred relationship Some 1
A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. Occurrence True Congenital Inferred relationship Some 2
A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. Occurrence True Congenital Inferred relationship Some 2
Trichorhinophalangeal syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital branched rib cartilage Occurrence True Congenital Inferred relationship Some 1
Dandy-Walker syndrome Occurrence True Congenital Inferred relationship Some 2
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. Occurrence False Congenital Inferred relationship Some 1
Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking. Occurrence True Congenital Inferred relationship Some 1
A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported. Occurrence True Congenital Inferred relationship Some 1
Right ventricle to left of left ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital absence of anus with fistula Occurrence True Congenital Inferred relationship Some 1
Jugular lymphatic obstruction sequence Occurrence True Congenital Inferred relationship Some 1
Primary renal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Male pseudohermaphroditism Occurrence True Congenital Inferred relationship Some 1
Spinal cord dysplasia Occurrence True Congenital Inferred relationship Some 1
Encephalomyelocele Occurrence True Congenital Inferred relationship Some 1
Patella dysplasia Occurrence True Congenital Inferred relationship Some 1
Patella dysplasia Occurrence False Congenital Inferred relationship Some 2
Fetal intrauterine intestinal perforation co-occurrent and due to congenital atresia of intestinal tract (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests). Occurrence True Congenital Inferred relationship Some 1
Cleft hard palate with right cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 1
Hyperphosphatasemia tarda Occurrence False Congenital Inferred relationship Some 2
Cervical hemivertebra - unbalanced Occurrence True Congenital Inferred relationship Some 1
A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. Occurrence True Congenital Inferred relationship Some 2
A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984. Occurrence False Congenital Inferred relationship Some 2
A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984. Occurrence True Congenital Inferred relationship Some 1
Axenfeld anomaly Occurrence True Congenital Inferred relationship Some 1
Singleton-Merten syndrome Occurrence True Congenital Inferred relationship Some 1
Patent foramen ovale Occurrence True Congenital Inferred relationship Some 1
Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Occurrence True Congenital Inferred relationship Some 1
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. Occurrence False Congenital Inferred relationship Some 2
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 3
Humeroulnar synostosis (disorder) Occurrence True Congenital Inferred relationship Some 1
A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of alisphenoid bone Occurrence True Congenital Inferred relationship Some 1
Osteopoikilosis Occurrence True Congenital Inferred relationship Some 1
Congenital pulmonary hypoplasia due to prolonged premature rupture of membranes (disorder) Occurrence True Congenital Inferred relationship Some 1
Intrahepatic biliary hypoplasia Occurrence True Congenital Inferred relationship Some 1
Pure gonadal dysgenesis 46,XX Occurrence True Congenital Inferred relationship Some 2
Atrioventricular septal defect - ventricular component under superior bridging leaflet Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex herpetiformis Occurrence True Congenital Inferred relationship Some 1
Hepatomphalocele Occurrence True Congenital Inferred relationship Some 1
Atretocephalus Occurrence False Congenital Inferred relationship Some 1
Renier Gabreels Jasper syndrome Occurrence False Congenital Inferred relationship Some 1
Congenital contractural arachnodactyly Occurrence True Congenital Inferred relationship Some 1
An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. Occurrence True Congenital Inferred relationship Some 1
An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. Occurrence True Congenital Inferred relationship Some 2
Neutropenia-monocytopenia-deafness syndrome is characterized by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections. Occurrence True Congenital Inferred relationship Some 2
Oculocerebral dysplasia syndrome Occurrence False Congenital Inferred relationship Some 1
Congenital localised alopecia Occurrence True Congenital Inferred relationship Some 1
Idiopathic osteolyses Occurrence False Congenital Inferred relationship Some 1
hernie endo-auriculaire congénitale Occurrence False Congenital Inferred relationship Some 1
Fusion of mandibular incisor teeth (disorder) Occurrence False Congenital Inferred relationship Some 1
Atresia of pulmonary artery with septal defect Occurrence True Congenital Inferred relationship Some 1
Total anomalous pulmonary venous connections of mixed type (disorder) Occurrence True Congenital Inferred relationship Some 1
Ectopic gastric mucosa Occurrence True Congenital Inferred relationship Some 1
Gardner syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of palatine bone Occurrence True Congenital Inferred relationship Some 1
Encephalocystocele Occurrence True Congenital Inferred relationship Some 1
Encephalocystocele Occurrence True Congenital Inferred relationship Some 2
A rare congenital limb malformation characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994. Occurrence True Congenital Inferred relationship Some 1
Schneckenbecken dysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of right atrioventricular valve in double inlet ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Persistent omphalomesenteric artery Occurrence True Congenital Inferred relationship Some 1
A rare disorder of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. Occurrence True Congenital Inferred relationship Some 2
A rare disorder of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. Occurrence True Congenital Inferred relationship Some 1
A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype. Occurrence True Congenital Inferred relationship Some 1
Congenital vesicoureterorenal reflux (disorder) Occurrence True Congenital Inferred relationship Some 1
Spina bifida with hydrocephalus Occurrence True Congenital Inferred relationship Some 3
Congenital stenosis of trachea due to tracheal web (disorder) Occurrence False Congenital Inferred relationship Some 1
Lenz-Majewski hyperostosis syndrome Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex with mottled pigmentation Occurrence True Congenital Inferred relationship Some 1
Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears). Occurrence True Congenital Inferred relationship Some 1
Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears). Occurrence True Congenital Inferred relationship Some 2
Congenital transposition of stomach Occurrence True Congenital Inferred relationship Some 1
Jackson-Weiss syndrome Occurrence True Congenital Inferred relationship Some 1
Jackson-Weiss syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital arteriovenous fistula rupture Occurrence True Congenital Inferred relationship Some 1
A rare constitutional hemolytic anemia that is characterized by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1. Occurrence True Congenital Inferred relationship Some 3
A rare constitutional hemolytic anemia that is characterized by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1. Occurrence True Congenital Inferred relationship Some 1
A rare constitutional hemolytic anemia that is characterized by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1. Occurrence True Congenital Inferred relationship Some 2
Jarcho-Levin syndrome Occurrence True Congenital Inferred relationship Some 1
Periodontitis co-occurrent with Chédiak-Higashi syndrome Occurrence False Congenital Inferred relationship Some 1
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia. Occurrence True Congenital Inferred relationship Some 3
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia. Occurrence True Congenital Inferred relationship Some 1
Chondrodysplasia punctata, X-linked recessive type (disorder) Occurrence True Congenital Inferred relationship Some 1
Right ventricular fibromuscular infundibular stenosis Occurrence False Congenital Inferred relationship Some 1

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