FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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 overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 1
Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. Occurrence True Congenital Inferred relationship Some 1
Lumbar spina bifida with hydrocephalus Occurrence True Congenital Inferred relationship Some 4
Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry. Occurrence True Congenital Inferred relationship Some 1
Anomalous pulmonary venous drainage to hepatic veins Occurrence True Congenital Inferred relationship Some 2
Transient mitral regurgitation of newborn Occurrence False Congenital Inferred relationship Some 1
Juvenile idiopathic generalised osteoporosis Occurrence False Congenital Inferred relationship Some 1
A rare syndrome characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. Occurrence True Congenital Inferred relationship Some 1
A rare syndrome characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. Occurrence True Congenital Inferred relationship Some 2
Persistent thyroglossal duct Occurrence True Congenital Inferred relationship Some 1
Nager syndrome Occurrence True Congenital Inferred relationship Some 1
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Female pseudohermaphroditism Occurrence False Congenital Inferred relationship Some 2
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. Occurrence True Congenital Inferred relationship Some 4
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. Occurrence True Congenital Inferred relationship Some 1
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. Occurrence True Congenital Inferred relationship Some 2
Encephalocele of orbit Occurrence True Congenital Inferred relationship Some 1
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis. Occurrence True Congenital Inferred relationship Some 1
Generalized macrodontia Occurrence False Congenital Inferred relationship Some 1
Beals auriculo-osteodysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Omphalomesenteric duct cyst Occurrence True Congenital Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. Occurrence True Congenital Inferred relationship Some 1
Muscle-eye-brain disease, congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of centrum of sacral vertebra Occurrence True Congenital Inferred relationship Some 1
A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia. Occurrence True Congenital Inferred relationship Some 2
A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia. Occurrence True Congenital Inferred relationship Some 1
Persistent aortic arch convolutions Occurrence True Congenital Inferred relationship Some 1
Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia. Occurrence True Congenital Inferred relationship Some 1
Basan syndrome Occurrence True Congenital Inferred relationship Some 1
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. Occurrence True Congenital Inferred relationship Some 1
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. Occurrence True Congenital Inferred relationship Some 3
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. Occurrence True Congenital Inferred relationship Some 2
Cervical spinal hydromeningocele Occurrence False Congenital Inferred relationship Some 3
Cervical spinal hydromeningocele Occurrence False Congenital Inferred relationship Some 1
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. Occurrence True Congenital Inferred relationship Some 2
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. Occurrence True Congenital Inferred relationship Some 1
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. Occurrence True Congenital Inferred relationship Some 3
Interrupted aortic arch between left common carotid and brachiocephalic artery Occurrence True Congenital Inferred relationship Some 1
Abnormal communication between pericardial sac and peritoneal cavity Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies. Occurrence True Congenital Inferred relationship Some 1
Multirooted tooth with divergent roots Occurrence False Congenital Inferred relationship Some 1
Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. Occurrence True Congenital Inferred relationship Some 2
Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. Occurrence True Congenital Inferred relationship Some 1
Pseudo-Hurler polydystrophy Occurrence True Congenital Inferred relationship Some 1
Rachischisis with hydrocephalus Occurrence False Congenital Inferred relationship Some 4
Rachischisis with hydrocephalus Occurrence True Congenital Inferred relationship Some 1
Rachischisis with hydrocephalus Occurrence True Congenital Inferred relationship Some 3
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature. Occurrence True Congenital Inferred relationship Some 1
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature. Occurrence True Congenital Inferred relationship Some 2
Capillary-venous-lymphatic malformation Occurrence True Congenital Inferred relationship Some 1
Capillary-venous-lymphatic malformation Occurrence True Congenital Inferred relationship Some 2
Supernumerary cusp Occurrence False Congenital Inferred relationship Some 1
Aplasia of muscle Occurrence True Congenital Inferred relationship Some 1
Right ventricular outflow tract obstruction due to common atrioventricular valve (disorder) Occurrence False Congenital Inferred relationship Some 1
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. Occurrence True Congenital Inferred relationship Some 2
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. Occurrence True Congenital Inferred relationship Some 3
Ectodermal dysplasia, syndactyly and pili torti Occurrence True Congenital Inferred relationship Some 1
Anodontia of permanent dentition (disorder) Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of tibia Occurrence True Congenital Inferred relationship Some 1
Hypogonadism with prune belly syndrome Occurrence True Congenital Inferred relationship Some 3
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998. Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998. Occurrence True Congenital Inferred relationship Some 2
Spondyloepimetaphyseal disorder Occurrence True Congenital Inferred relationship Some 1
Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. Occurrence True Congenital Inferred relationship Some 3
Spina bifida Occurrence True Congenital Inferred relationship Some 1
Congenital horizontal mandibular hypoplasia Occurrence True Congenital Inferred relationship Some 1
Muscular ventricular septal defect in central trabecular septum Occurrence True Congenital Inferred relationship Some 1
Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities. Occurrence True Congenital Inferred relationship Some 1
Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities. Occurrence True Congenital Inferred relationship Some 2
Polyorchism Occurrence True Congenital Inferred relationship Some 1
Spondyloenchondrodysplasia with immune dysregulation Occurrence True Congenital Inferred relationship Some 1
Double kidney Occurrence True Congenital Inferred relationship Some 1
Progressive junctional epidermolysis bullosa (neurotrophic) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Multiple neurofibromas in neurofibromatosis (disorder) Occurrence True Congenital Inferred relationship Some 2
Multiple neurofibromas in neurofibromatosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Diffuse hypoplasia of right ventricle Occurrence True Congenital Inferred relationship Some 1
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. Occurrence True Congenital Inferred relationship Some 2
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. Occurrence True Congenital Inferred relationship Some 1
Amelogenesis imperfecta, pigmented hypomaturation type (disorder) Occurrence True Congenital Inferred relationship Some 1
Low assimilation pelvis Occurrence True Congenital Inferred relationship Some 1
Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. Occurrence True Congenital Inferred relationship Some 1
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Occurrence True Congenital Inferred relationship Some 1
An extremely rare genetic congenital heart disease characterized by the presence of atrial septal defect, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block. Occurrence True Congenital Inferred relationship Some 1
Enamel-renal syndrome Occurrence False Congenital Inferred relationship Some 1
Rud's syndrome Occurrence True Congenital Inferred relationship Some 1
Bent bone dysplasia Occurrence False Congenital Inferred relationship Some 1
A rare, rhizo-mesomelic dysplasia characterised by distinct facial features (flat midface, flat small nose, anteverted nares, low set ears, protuberant eyes, and small mouth with long upper lip), markedly short limbs with relatively normal hands and feet, short ribs with broad metaphyses and small bell-shaped thorax with protuberant abdomen. Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. Affected individuals who survive the neonatal period present with severe global developmental delay, severe skeletal dysplasia, high myopia and mild to moderate hearing loss. Occurrence True Congenital Inferred relationship Some 1
Ectopic glial tissue Occurrence True Congenital Inferred relationship Some 1
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. Occurrence True Congenital Inferred relationship Some 2
Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. Occurrence True Congenital Inferred relationship Some 1
Peutz-Jeghers syndrome Occurrence True Congenital Inferred relationship Some 3
Hypodontia and nail dysgenesis Occurrence True Congenital Inferred relationship Some 3
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 Occurrence False Congenital Inferred relationship Some 1
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 Occurrence False Congenital Inferred relationship Some 3
A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. Occurrence True Congenital Inferred relationship Some 1
Cervical, vaginal and external female genital anomalies Occurrence True Congenital Inferred relationship Some 1
Myeloschisis Occurrence True Congenital Inferred relationship Some 1
A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association. Occurrence True Congenital Inferred relationship Some 1
A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 2
A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 1

Start Previous Page 284 of 344 Next End

This concept is not in any reference sets

Back to Start