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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
Congenital asymmetry of kidneys (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short middle finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short middle phalanx of second toe Occurrence True Congenital Inferred relationship Some 1
Abnormally short middle phalanx of third toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short middle phalanx of fifth toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short middle phalanx of lesser toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short phalanx of great toe Occurrence True Congenital Inferred relationship Some 1
Abnormally short phalanx of second toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short phalanx of third toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short phalanx of fourth toe Occurrence True Congenital Inferred relationship Some 1
Abnormally short phalanx of fifth toe Occurrence True Congenital Inferred relationship Some 1
Abnormally short phalanx of finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short phalanx of thumb (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital absence of left external ear (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital absence of right external ear (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital absence of bilateral external ears Occurrence True Congenital Inferred relationship Some 1
Congenital absence of bilateral external ears Occurrence True Congenital Inferred relationship Some 2
Abnormally short middle phalanx of fourth toe Occurrence True Congenital Inferred relationship Some 1
Abnormally short proximal phalanx of ring finger Occurrence True Congenital Inferred relationship Some 1
Abnormally short proximal phalanx of little finger Occurrence True Congenital Inferred relationship Some 1
Abnormally short proximal phalanx of thumb Occurrence True Congenital Inferred relationship Some 1
Abnormally short proximal phalanx of great toe Occurrence True Congenital Inferred relationship Some 1
Abnormally short proximal phalanx of third toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short proximal phalanx of second toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short proximal phalanx of fourth toe Occurrence True Congenital Inferred relationship Some 1
Abnormally short proximal phalanx of finger Occurrence True Congenital Inferred relationship Some 1
Abnormally short proximal phalanx of fifth toe Occurrence True Congenital Inferred relationship Some 1
Abnormally short proximal phalanx of index finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short proximal phalanx of foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short proximal phalanx of middle finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short second metacarpal Occurrence True Congenital Inferred relationship Some 1
Abnormally short third metacarpal (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short ring finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short second toe Occurrence True Congenital Inferred relationship Some 1
Abnormally short third toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short ramus of mandible (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short second metatarsal (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormally short third metatarsal (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormal tapering of distal femur (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormal tapering of distal metatarsal (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormal tapering of proximal metacarpal (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormal tapering of humerus (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormal tapering of metacarpal (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormal tapering of phalanx of foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormal tapering of distal phalanx of finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Abnormal tapering of phalanx of finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Neurenteric cyst of spine (disorder) Occurrence True Congenital Inferred relationship Some 1
Neurenteric cyst of spine (disorder) Occurrence True Congenital Inferred relationship Some 2
Neurenteric cyst of intracranial structure Occurrence True Congenital Inferred relationship Some 1
Neurenteric cyst of intracranial structure Occurrence True Congenital Inferred relationship Some 2
Duplication cyst of trachea (disorder) Occurrence True Congenital Inferred relationship Some 1
Duplication cyst of trachea (disorder) Occurrence True Congenital Inferred relationship Some 2
Developmental abnormality of deciduous tooth (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of fronto-parietal cortex (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of fronto-parietal cortex (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital superior cerebellar dysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of head of femur (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of nail unit (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of spine (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of nail unit of toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Asymmetric dysplasia of radius Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of thorax (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of nail unit of finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of bronchus (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of radius (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of second lumbar vertebra (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of cervical vertebra (disorder) Occurrence True Congenital Inferred relationship Some 1
Mitochondrial complex I deficiency nuclear type 10 (disorder) Occurrence True Congenital Inferred relationship Some 1
A form of non-syndromic unisutural craniosynostosis characterised by the premature fusion of the suture between the frontal and sphenoid bones of the newborn, leading to frontal flattening and asymmetry of the forehead with recession of the supraorbital rim on the fused side of the head. Occurrence True Congenital Inferred relationship Some 1
A form of non-syndromic unisutural craniosynostosis characterized by premature fusion of one of the two squamosal sutures. Most cases of isolated unilateral squamosal craniosynostosis are normocephalic. The risk of increased intracranial pressure is low. Occurrence True Congenital Inferred relationship Some 1
A form of non-syndromic unisutural craniosynostosis characterized by premature fusion of one of the two lambdoid sutures, resulting in ipsilateral occipitoparietal flattening, contralateral parietal and frontal bossing, occipitomastoid bulge, and posterior-inferior displacement of the ipsilateral ear. The skull appears trapezoid from above, while the face is typically C-shaped with ipsilateral convexity. Occurrence True Congenital Inferred relationship Some 1
A form of non-syndromic multisutural craniosynostosis characterised by bilateral premature fusion of the lambdoid sutures, resulting in flattening and widening of the entire occipital region, with compensatory bossing of the vertex region (giving the cranium an elongated shape), and anterior-posterior displacement of the ears. Occurrence True Congenital Inferred relationship Some 1
A form of non-syndromic multisutural craniosynostosis characterised by bilateral premature fusion of the lambdoid sutures, resulting in flattening and widening of the entire occipital region, with compensatory bossing of the vertex region (giving the cranium an elongated shape), and anterior-posterior displacement of the ears. Occurrence True Congenital Inferred relationship Some 2
Schöpf-Schulz-Passarge syndrome Occurrence True Congenital Inferred relationship Some 1
Supravesical fissure of urinary bladder (disorder) Occurrence True Congenital Inferred relationship Some 1
Schöpf-Schulz-Passarge syndrome Occurrence True Congenital Inferred relationship Some 4
Schöpf-Schulz-Passarge syndrome Occurrence True Congenital Inferred relationship Some 6
Schöpf-Schulz-Passarge syndrome Occurrence True Congenital Inferred relationship Some 7
Schöpf-Schulz-Passarge syndrome Occurrence True Congenital Inferred relationship Some 8
A rare spondylodysplastic dysplasia characterized by severe, neonatal skeletal manifestations (including narrow thorax, rhizomelic shortening of the limbs with cupped anterior ends, mild to severe platyspondyly, lacy iliac crests, delayed ossification of the caudal ilia, ragged/cupped metaphyses of the long bones and hypoplastic pubic rami), severe respiratory failure (patients could require lifelong ventilation support), severe short stature and developmental delay. Additional clinical features may include atrial septal defect, seizures, pulmonary hypoplasia, gallbladder hypoplasia and hepatic fibrosis. Neutropenia and decreased serum amylase can be present. Occurrence True Congenital Inferred relationship Some 1
A rare type of Ehlers-Danlos syndrome characterised by connective tissue defects (joint laxity of finger joints and knees, small joint hypermotility and tissue fragility), vascular complications (atrioventricular defect, symptomatic cerebral aneurysm, vascular dissection) and frontoparietally accentuated polymicrogyria of the cobblestone variant. Specific brain anomalies (including cerebrocortical dysplasia, cerebellar microcysts and white matter anomalies) are present in all patients. Most of the affected individuals have developmental delay and may develop epilepsy. Additional clinical features include spontaneous intracranial hypotension, idiopathic intracranial hypertension, headache, chronic pain syndrome, peripheral neuropathy, plexopathy, translucent skin and clubfoot. Dysmorphic features such as eye anomalies (strabismus, bilateral hyperopia, esotropia, proptosis), pinched nose, thin upper lip, crowded teeth and retrognathia are also reported. Occurrence True Congenital Inferred relationship Some 1
A rare type of Ehlers-Danlos syndrome characterised by connective tissue defects (joint laxity of finger joints and knees, small joint hypermotility and tissue fragility), vascular complications (atrioventricular defect, symptomatic cerebral aneurysm, vascular dissection) and frontoparietally accentuated polymicrogyria of the cobblestone variant. Specific brain anomalies (including cerebrocortical dysplasia, cerebellar microcysts and white matter anomalies) are present in all patients. Most of the affected individuals have developmental delay and may develop epilepsy. Additional clinical features include spontaneous intracranial hypotension, idiopathic intracranial hypertension, headache, chronic pain syndrome, peripheral neuropathy, plexopathy, translucent skin and clubfoot. Dysmorphic features such as eye anomalies (strabismus, bilateral hyperopia, esotropia, proptosis), pinched nose, thin upper lip, crowded teeth and retrognathia are also reported. Occurrence True Congenital Inferred relationship Some 2
A rare type of Ehlers-Danlos syndrome characterised by connective tissue defects (joint laxity of finger joints and knees, small joint hypermotility and tissue fragility), vascular complications (atrioventricular defect, symptomatic cerebral aneurysm, vascular dissection) and frontoparietally accentuated polymicrogyria of the cobblestone variant. Specific brain anomalies (including cerebrocortical dysplasia, cerebellar microcysts and white matter anomalies) are present in all patients. Most of the affected individuals have developmental delay and may develop epilepsy. Additional clinical features include spontaneous intracranial hypotension, idiopathic intracranial hypertension, headache, chronic pain syndrome, peripheral neuropathy, plexopathy, translucent skin and clubfoot. Dysmorphic features such as eye anomalies (strabismus, bilateral hyperopia, esotropia, proptosis), pinched nose, thin upper lip, crowded teeth and retrognathia are also reported. Occurrence True Congenital Inferred relationship Some 3
A rare type of Ehlers-Danlos syndrome characterised by connective tissue defects (joint laxity of finger joints and knees, small joint hypermotility and tissue fragility), vascular complications (atrioventricular defect, symptomatic cerebral aneurysm, vascular dissection) and frontoparietally accentuated polymicrogyria of the cobblestone variant. Specific brain anomalies (including cerebrocortical dysplasia, cerebellar microcysts and white matter anomalies) are present in all patients. Most of the affected individuals have developmental delay and may develop epilepsy. Additional clinical features include spontaneous intracranial hypotension, idiopathic intracranial hypertension, headache, chronic pain syndrome, peripheral neuropathy, plexopathy, translucent skin and clubfoot. Dysmorphic features such as eye anomalies (strabismus, bilateral hyperopia, esotropia, proptosis), pinched nose, thin upper lip, crowded teeth and retrognathia are also reported. Occurrence True Congenital Inferred relationship Some 4
Coenzyme Q2, polyprenyltransferase gene related-coenzyme Q10 deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound. Occurrence True Congenital Inferred relationship Some 6
Coenzyme Q10 deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare mitochondrial disease characterized by neonatal onset of severe cardiac and/or neurologic signs and symptoms mostly associated with a fatal outcome in the neonatal period or in infancy, although a milder phenotype with later onset and slowly progressive neurologic deterioration has also been reported. Clinical manifestations are variable and include respiratory insufficiency, hypotonia, cardiomyopathy, and seizures. Serum lactate is elevated in most cases. Brain imaging may show cerebellar atrophy or hypoplasia. Occurrence True Congenital Inferred relationship Some 6
Epsilon-N-trimethyllysine hydroxylase carnitine deficiency disorder (disorder) Occurrence True Congenital Inferred relationship Some 1
Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency. Occurrence True Congenital Inferred relationship Some 2
Congenital deformity of left sternocleidomastoid muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of right sternocleidomastoid muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of sternocleidomastoid muscle Occurrence True Congenital Inferred relationship Some 1
Agenesis of external ear Occurrence True Congenital Inferred relationship Some 1
A rare primary vascular anomaly characterized by mostly fusiform, rarely saccular aneurysm of the superior vena cava. Patients can be asymptomatic or manifest mostly with dyspnea, chest pain, pain in the retrosternal region, hypotension, acute upper or lower respiratory tract infection symptoms and left arm paresthesias. It is usually incidentally detected due to the presence of mediastinal shadow in X-ray. Occurrence True Congenital Inferred relationship Some 1
A rare primary vascular anomaly, characterised by saccular or rarely fusiform aneurysm of the inferior vena cava. Patients may present with chest pain, abdominal pain, back pain, lower extremity pain and oedema, fatigue and fainting. Deep venous thrombosis, penile haemorrhage, paradoxical cerebral embolism and pulmonary embolism can also be observed. It is usually incidentally detected during ultrasound or computed tomography scan examinations or in patients with thromboembolic disease. Occurrence True Congenital Inferred relationship Some 1
Congenital vaginal enterocele Occurrence True Congenital Inferred relationship Some 3
A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic. Occurrence True Congenital Inferred relationship Some 1
Congenital hallux valgus due to metatarsus primus varus Occurrence True Congenital Inferred relationship Some 1
Left congenital hallux valgus due to metatarsus primus varus Occurrence True Congenital Inferred relationship Some 1
Right congenital hallux valgus due to metatarsus primus varus Occurrence True Congenital Inferred relationship Some 1

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