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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 syndromic microphthalmia characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay. Occurrence True Congenital Inferred relationship Some 3
A rare syndromic microphthalmia characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay. Occurrence True Congenital Inferred relationship Some 1
A rare syndromic microphthalmia characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay. Occurrence True Congenital Inferred relationship Some 2
A rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG). Occurrence True Congenital Inferred relationship Some 2
A rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG). Occurrence True Congenital Inferred relationship Some 3
A rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Occurrence True Congenital Inferred relationship Some 2
A rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Occurrence True Congenital Inferred relationship Some 1
A rare genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present. Occurrence True Congenital Inferred relationship Some 1
A rare chromosomal anomaly characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Occurrence True Congenital Inferred relationship Some 2
A rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Occurrence True Congenital Inferred relationship Some 3
A rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Occurrence True Congenital Inferred relationship Some 1
A rare syndromic chorioretinal dystrophy characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ectopia pupillae and retinal detachment. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose. Occurrence True Congenital Inferred relationship Some 2
Bilateral metatarsus varus Occurrence True Congenital Inferred relationship Some 2
Bilateral metatarsus varus Occurrence True Congenital Inferred relationship Some 1
Congenital hammer toe of lesser toe of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hammer toe of lesser toe of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital fistula of pinna of ear Occurrence True Congenital Inferred relationship Some 1
Congenital cyst of pinna of ear Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of bilateral hands (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital deformity of bilateral hands (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of bilateral hip joints (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of bilateral hip joints (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital deformity of toe of left foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of toe of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital deformity of toe of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of toe of right foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of bilateral upper limbs (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of bilateral upper limbs (disorder) Occurrence True Congenital Inferred relationship Some 2
Accessory tarsal bone of right foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral talipes Occurrence True Congenital Inferred relationship Some 4
Bilateral talipes Occurrence True Congenital Inferred relationship Some 3
Bilateral talipes Occurrence True Congenital Inferred relationship Some 2
Bilateral talipes Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of right hand (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of left hip joint (disorder) Occurrence True Congenital Inferred relationship Some 1
Isolated ATP synthase deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS). Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of right hip joint (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital coloboma of optic disc Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of left hand (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare coronary artery congenital malformation with characteristics of anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death especially during exercise. Occurrence True Congenital Inferred relationship Some 1
Talipes of right foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Talipes of right foot (disorder) Occurrence True Congenital Inferred relationship Some 2
Talipes of left foot (disorder) Occurrence True Congenital Inferred relationship Some 2
Talipes of left foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Tarsal coalitions of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Some 1
Tarsal coalitions of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Some 2
Retinal hemangioblastomatosis Occurrence True Congenital Inferred relationship Some 1
Dextrorotation of heart Occurrence True Congenital Inferred relationship Some 1
Congenital levorotation of heart (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital malrotation of heart Occurrence True Congenital Inferred relationship Some 1
Congenital absence of left forearm and hand (disorder) Occurrence False Congenital Inferred relationship Some 3
Congenital absence of left forearm and hand (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital absence of left forearm and hand (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital absence of left forearm and hand (disorder) Occurrence False Congenital Inferred relationship Some 4
Congenital absence of right forearm and hand Occurrence True Congenital Inferred relationship Some 2
Congenital absence of right forearm and hand Occurrence False Congenital Inferred relationship Some 3
Congenital absence of right forearm and hand Occurrence False Congenital Inferred relationship Some 4
Congenital absence of right forearm and hand Occurrence True Congenital Inferred relationship Some 1
Left inferior vena cava connecting to left sided atrium (disorder) Occurrence True Congenital Inferred relationship Some 2
Transposition of inferior vena cava Occurrence True Congenital Inferred relationship Some 1
Left inferior vena cava connecting to right sided atrium (disorder) Occurrence True Congenital Inferred relationship Some 2
Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation (disorder) Occurrence True Congenital Inferred relationship Some 2
Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital malformation of left ear with impairment of hearing Occurrence True Congenital Inferred relationship Some 1
Accessory auricle of right ear Occurrence True Congenital Inferred relationship Some 1
Impairment of hearing of right ear co-occurrent and due to congenital ear malformation (disorder) Occurrence True Congenital Inferred relationship Some 1
Accessory auricle of left ear (disorder) Occurrence True Congenital Inferred relationship Some 1
Manus flexa Occurrence False Congenital Inferred relationship Some 1
Congenital genu varum Occurrence True Congenital Inferred relationship Some 1
A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. Occurrence True Congenital Inferred relationship Some 1
Congenital bent clavicle Occurrence True Congenital Inferred relationship Some 1
Midline fissured, notched and cleft nose Occurrence False Congenital Inferred relationship Some 1
Manus extensa Occurrence False Congenital Inferred relationship Some 1
Posterior deviation of infundibular septum of obstructive aortic arch type (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital subluxation of hip, bilateral Occurrence True Congenital Inferred relationship Some 2
Congenital subluxation of hip, bilateral Occurrence True Congenital Inferred relationship Some 1
Cavernous hemangioma of brain (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital insufficiency of aortic valve Occurrence True Congenital Inferred relationship Some 1
Congenital absence of all toes Occurrence True Congenital Inferred relationship Some 1
schwannomatose Occurrence False Congenital Inferred relationship Some 2
schwannomatose Occurrence False Congenital Inferred relationship Some 1
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. Occurrence True Congenital Inferred relationship Some 4
Bilateral right-sidedness sequence Occurrence False Congenital Inferred relationship Some 1
Agenesis of clavicle Occurrence True Congenital Inferred relationship Some 1
Ventricular imbalance with dominant left ventricle and hypoplastic right ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Ventricular imbalance with dominant right ventricle and hypoplastic left ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Myelatelia Occurrence True Congenital Inferred relationship Some 1
Incomplete development of membranous labyrinth Occurrence True Congenital Inferred relationship Some 1
Right atrioventricular valve hypoplasia Occurrence True Congenital Inferred relationship Some 1
Rudimentary tracheal bronchus Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. Occurrence False Congenital Inferred relationship Some 5
Hypoplasia of right atrioventricular valve annulus in double inlet ventricle (disorder) Occurrence True Congenital Inferred relationship Some 2
Hypoplasia of right atrioventricular valve annulus in double inlet ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypoplasia of left atrioventricular valve annulus in double inlet ventricle (disorder) Occurrence True Congenital Inferred relationship Some 2
Hypoplasia of left atrioventricular valve annulus in double inlet ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Median raphe cyst (disorder) Occurrence True Congenital Inferred relationship Some 1
Oligohydramnios sequence Occurrence True Congenital Inferred relationship Some 1

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