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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
Lipomyelomeningocele Occurrence False Congenital Inferred relationship Some 3
Lipomyelomeningocele Occurrence False Congenital Inferred relationship Some 6
Lipomyelomeningocele Occurrence False Congenital Inferred relationship Some 5
Lipomyelomeningocele Occurrence True Congenital Inferred relationship Some 2
Lumbar meningomyelocele Occurrence True Congenital Inferred relationship Some 5
Lumbar meningomyelocele Occurrence True Congenital Inferred relationship Some 1
A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the gray line, associated with cleft lip and palate. Eye examination is otherwise normal. Occurrence True Congenital Inferred relationship Some 1
A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the gray line, associated with cleft lip and palate. Eye examination is otherwise normal. Occurrence True Congenital Inferred relationship Some 2
hydromyéloméningocèle Occurrence False Congenital Inferred relationship Some 4
hydromyéloméningocèle Occurrence False Congenital Inferred relationship Some 1
hydromyéloméningocèle Occurrence False Congenital Inferred relationship Some 6
hydromyéloméningocèle Occurrence False Congenital Inferred relationship Some 2
A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscle weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies. Occurrence True Congenital Inferred relationship Some 1
A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscle weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies. Occurrence True Congenital Inferred relationship Some 2
Meningomyelocele (disorder) Occurrence True Congenital Inferred relationship Some 4
Meningomyelocele (disorder) Occurrence True Congenital Inferred relationship Some 5
Meningomyelocele (disorder) Occurrence False Congenital Inferred relationship Some 3
Meningomyelocele (disorder) Occurrence True Congenital Inferred relationship Some 1
Meningomyelocele (disorder) Occurrence True Congenital Inferred relationship Some 2
Myelomeningocele that occurs in the region L1 to L3. Occurrence False Congenital Inferred relationship Some 4
Myelomeningocele that occurs in the region L1 to L3. Occurrence True Congenital Inferred relationship Some 5
Myelomeningocele that occurs in the region L1 to L3. Occurrence True Congenital Inferred relationship Some 3
Myelomeningocele that occurs in the region L1 to L3. Occurrence True Congenital Inferred relationship Some 2
Thoracic meningomyelocele Occurrence True Congenital Inferred relationship Some 5
Thoracic meningomyelocele Occurrence True Congenital Inferred relationship Some 1
A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987. Occurrence True Congenital Inferred relationship Some 1
A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987. Occurrence True Congenital Inferred relationship Some 3
A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987. Occurrence False Congenital Inferred relationship Some 5
A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987. Occurrence True Congenital Inferred relationship Some 4
A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987. Occurrence True Congenital Inferred relationship Some 2
Myelomeningocele that occurs in the region L4 to L5. Occurrence False Congenital Inferred relationship Some 4
Myelomeningocele that occurs in the region L4 to L5. Occurrence True Congenital Inferred relationship Some 5
Myelomeningocele that occurs in the region L4 to L5. Occurrence True Congenital Inferred relationship Some 3
Myelomeningocele that occurs in the region L4 to L5. Occurrence True Congenital Inferred relationship Some 2
A rare congenital hypothyroidism disorder characterized by transient, primary, fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goiter, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalize without treatment within 3 weeks of birth. Occurrence True Congenital Inferred relationship Some 1
Myelomeningocele without hydrocephalus (disorder) Occurrence True Congenital Inferred relationship Some 4
Myelomeningocele without hydrocephalus (disorder) Occurrence True Congenital Inferred relationship Some 2
Myelomeningocele without hydrocephalus (disorder) Occurrence False Congenital Inferred relationship Some 5
Myelomeningocele without hydrocephalus (disorder) Occurrence True Congenital Inferred relationship Some 1
Myelomeningocele without hydrocephalus (disorder) Occurrence True Congenital Inferred relationship Some 3
A rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. Occurrence False Congenital Inferred relationship Some 2
A rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. Occurrence False Congenital Inferred relationship Some 1
Spina bifida aperta Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy and delayed or arrested motor development, associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency, and ocular anomalies (e.g. strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy and delayed or arrested motor development, associated with mild to severe intellectual disability and variable brain abnormalities on neuroimaging studies. Feeding difficulties, joint and spinal deformities, respiratory insufficiency, and ocular anomalies (e.g. strabismus, retinal dystrophy, oculomotor apraxia) may be associated. Decreased or absent alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed. Occurrence True Congenital Inferred relationship Some 2
Myelomeningocele co-occurrent with hydrocephalus (disorder) Occurrence True Congenital Inferred relationship Some 5
A rare, genetic, congenital muscular dystrophy due to dystroglycanopathy characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed. Occurrence True Congenital Inferred relationship Some 1
Cervical meningomyelocele Occurrence False Congenital Inferred relationship Some 3
Cervical meningomyelocele Occurrence True Congenital Inferred relationship Some 5
Reunion-Indiana Amish type muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Manifesting female carrier of X-linked muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Emery-Dreifuss muscular dystrophy (disorder) Occurrence False Congenital Inferred relationship Some 1
Autosomal dominant muscular dystrophy not predominantly limb girdle Occurrence True Congenital Inferred relationship Some 1
X-linked limb girdle muscular dystrophy with normal dystrophin Occurrence True Congenital Inferred relationship Some 1
Becker muscular dystrophy (disorder) Occurrence True Congenital Inferred relationship Some 1
Benign scapuloperoneal muscular dystrophy (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital muscular hypertrophy-cerebral syndrome Occurrence True Congenital Inferred relationship Some 1
Ji muscular dystrophy Occurrence False Congenital Inferred relationship Some 1
Fukuyama congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Hereditary myopathy limited to females Occurrence True Congenital Inferred relationship Some 1
Facioscapulohumeral muscular dystrophy (disorder) Occurrence True Congenital Inferred relationship Some 1
Merosin deficient congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate. Occurrence True Congenital Inferred relationship Some 1
Agenesis of body of uterus Occurrence True Congenital Inferred relationship Some 1
Aplasia of body of uterus Occurrence True Congenital Inferred relationship Some 1
X-linked muscular dystrophy not predominantly limb girdle (disorder) Occurrence True Congenital Inferred relationship Some 1
X-linked muscular dystrophy with limb girdle distribution Occurrence True Congenital Inferred relationship Some 1
Hyper-IgM syndrome with susceptibility to opportunistic infections is a rare, genetic, non-severe combined immunodeficiency disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent or severe bacterial infections and increased susceptibility to opportunistic infections (in particular, pneumonia due to P. jiroveci, but also chronic cryptosporidial, cryptococcal, cytomegalovirus and toxoplasma infections). Hematologic disorders (neutropenia, anemia, thrombocytopenia) are frequently associated. Immunologic findings reveal decreased numbers of CD27+ memory B cells and lack of germinal center formation. Occurrence False Congenital Inferred relationship Some 1
Benign scapuloperoneal muscular dystrophy with cardiomyopathy Occurrence False Congenital Inferred relationship Some 1
Hutterite type of muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
X-linked muscular dystrophy with abnormal dystrophin Occurrence True Congenital Inferred relationship Some 1
Scapulohumeral muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Hyper-IgM syndrome without susceptibility to opportunistic infections is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by normal or elevated IgM serum levels with low or absent IgG, IgA and IgE serum concentrations, which manifests with recurrent bacterial sinopulmonary and gastrointestinal infections, with frequent lymphoid hyperplasia (peripheral lymphadenopathy, tonsillar hypertrophy), with no increased susceptibility to opportunistic infections. Autoimmune manifestations (including immune cytopenias, arthritis and hepatitis) are occasionally associated. Immunologic findings reveal absent immunoglobulin class switch recombination and lack of defect of immunoglobulin somatic hypermutations in the presence of normal numbers of CD27+ memory B cells. Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive muscular dystrophy not predominantly limb girdle Occurrence True Congenital Inferred relationship Some 1
Congenital hereditary muscular dystrophy (disorder) Occurrence True Congenital Inferred relationship Some 1
Intermediate X-linked muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Hereditary isolated aplastic anemia is a rare, genetic, constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion dependent. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF. Occurrence True Congenital Inferred relationship Some 1
McCune Albright syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Osteomesopycnosis Occurrence False Congenital Inferred relationship Some 3
Osteosclerosis Occurrence True Congenital Inferred relationship Some 1
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. Occurrence True Congenital Inferred relationship Some 3
Female pseudohermaphroditism Occurrence True Congenital Inferred relationship Some 1
A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. Occurrence True Congenital Inferred relationship Some 3
Encephalocele Occurrence True Congenital Inferred relationship Some 1
Localized abdominal wall skin atrophy Occurrence False Congenital Inferred relationship Some 2
Nasal encephalocele Occurrence True Congenital Inferred relationship Some 1
Nasal encephalocele Occurrence True Congenital Inferred relationship Some 2
hydromyélocèle Occurrence False Congenital Inferred relationship Some 1
Hydromyelia Occurrence True Congenital Inferred relationship Some 1
Congenital tracheobronchomegaly Occurrence True Congenital Inferred relationship Some 2
Congenital tracheobronchomegaly Occurrence True Congenital Inferred relationship Some 1
Microcystic renal disease Occurrence True Congenital Inferred relationship Some 1
hydromyéloméningocèle Occurrence False Congenital Inferred relationship Some 3
Congenital honeycomb lung Occurrence True Congenital Inferred relationship Some 1
Congenital cystic lung Occurrence True Congenital Inferred relationship Some 1
Congenital spastic foot Occurrence True Congenital Inferred relationship Some 1
Congenital spastic foot Occurrence True Congenital Inferred relationship Some 2
Congenital deaf mutism Occurrence True Congenital Inferred relationship Some 1
Complete cleft of hard palate Occurrence True Congenital Inferred relationship Some 1
Bilateral incomplete cleft lip and bilateral incomplete cleft of alveolar process of maxilla (disorder) Occurrence True Congenital Inferred relationship Some 3

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