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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
SOX2 anophthalmia syndrome Occurrence False Congenital Inferred relationship Some
Mitral valve dysplasia Occurrence False Congenital Inferred relationship Some
Mitral leaflet dysplasia Occurrence False Congenital Inferred relationship Some
Thyroglossal duct sinus (disorder) Occurrence False Congenital Inferred relationship Some
Male subcoronal hypospadias Occurrence False Congenital Inferred relationship Some
Prominent renal pelvis Occurrence False Congenital Inferred relationship Some
Myostatin related hypertrophy of muscle Occurrence False Congenital Inferred relationship Some
Buccal maxillary posterior crossbite (disorder) Occurrence False Congenital Inferred relationship Some
Congenital prelingual deafness Occurrence False Congenital Inferred relationship Some
15q13.3 microdeletion Occurrence False Congenital Inferred relationship Some
Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. Occurrence False Congenital Inferred relationship Some
WNT4 Mullerian aplasia and ovarian dysfunction Occurrence False Congenital Inferred relationship Some
Ohdo syndrome, Maat-Kievit-Brunner type Occurrence False Congenital Inferred relationship Some
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present. Occurrence False Congenital Inferred relationship Some
Multiple venous malformation of skin and mucous membrane (disorder) Occurrence False Congenital Inferred relationship Some
1q21.1 microdeletion Occurrence False Congenital Inferred relationship Some
Chromosome 1p36 deletion syndrome (disorder) Occurrence False Congenital Inferred relationship Some
Chromosome 16p11.2 deletion syndrome Occurrence False Congenital Inferred relationship Some
15q24 microdeletion Occurrence False Congenital Inferred relationship Some
A rare genetic neurodevelopmental disorder characterised by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Occurrence False Congenital Inferred relationship Some
A rare chromosomal anomaly characterised by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal. Occurrence False Congenital Inferred relationship Some
Weissenbacher-Zweymuller syndrome Occurrence False Congenital Inferred relationship Some
Neutral lipid storage disease with myopathy (disorder) Occurrence True Congenital Inferred relationship Some 2
Myhre syndrome Occurrence False Congenital Inferred relationship Some
Myoclonic epilepsy myopathy sensory ataxia (disorder) Occurrence True Congenital Inferred relationship Some 2
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment. Occurrence False Congenital Inferred relationship Some
A form of amelogenesis imperfecta characterized by incomplete formation of the dental enamel and transmitted as an X-linked or autosomal dominant trait. Occurrence False Congenital Inferred relationship Some
Hemifacial myohyperplasia Occurrence False Congenital Inferred relationship Some
Andersen Tawil syndrome (disorder) Occurrence False Congenital Inferred relationship Some
Median cleft lip and cleft of alveolar process of maxilla Occurrence False Congenital Inferred relationship Some
Generalized spacing of maxillary teeth Occurrence False Congenital Inferred relationship Some
Generalized spacing of mandibular teeth Occurrence False Congenital Inferred relationship Some
Congenital double lip Occurrence False Congenital Inferred relationship Some
Subependymal nodular heterotopia (disorder) Occurrence False Congenital Inferred relationship Some
Labial ectopic tooth Occurrence False Congenital Inferred relationship Some
Duane-radial ray syndrome (disorder) Occurrence False Congenital Inferred relationship Some
Severe achondrolasia with developmental delay and acanthosis nigricans Occurrence False Congenital Inferred relationship Some
Congenital penile adhesion Occurrence False Congenital Inferred relationship Some
Congenital anomaly of vertebral region of back Occurrence False Congenital Inferred relationship Some
Oculofaciocardiodental syndrome (disorder) Occurrence False Congenital Inferred relationship Some
Mosaic variegated aneuploidy syndrome (disorder) Occurrence False Congenital Inferred relationship Some
A form of monogenic obesity with characteristics of severe early-onset obesity and marked hyperphagia. Patients with congenital leptin deficiency are severely hyperphagic from early infancy and, although birthweight is normal, they rapidly become obese during early childhood. An increased susceptibility to infections has also been reported in these infants and appears to be associated with reduced numbers of circulating CD4+ T cells, and impaired T cell proliferation and cytokine release. Absence of serum leptin is caused by homozygous frameshift or missense mutations in the ob gene (7q31.3) and is inherited as an autosomal recessive trait. Occurrence True Congenital Inferred relationship Some 1
Congenital velopharyngeal dysfunction Occurrence True Congenital Inferred relationship Some 1
Congenital posterior subcapsular polar cataract Occurrence False Congenital Inferred relationship Some
Congenital anterior subcapsular polar cataract Occurrence False Congenital Inferred relationship Some
An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive. Occurrence True Congenital Inferred relationship Some 1
Combined malonic and methylmalonic aciduria Occurrence True Congenital Inferred relationship Some 1
Congenital facial asymmetry Occurrence True Congenital Inferred relationship Some 1
Arginine:glycine amidinotransferase deficiency Occurrence True Congenital Inferred relationship Some 1
FOXG1 syndrome Occurrence True Congenital Inferred relationship Some 1
Posterior perimaxillary faciosynostosis Occurrence False Congenital Inferred relationship Some 3
Maxillo-zygomatic dysostosis Occurrence False Congenital Inferred relationship Some 2
Anorectal anomaly Occurrence False Congenital Inferred relationship Some 3
Aicardi's syndrome Occurrence True Congenital Inferred relationship Some 2
Aicardi's syndrome Occurrence False Congenital Inferred relationship Some 5
Congenital occlusion of iliac vein Occurrence True Congenital Inferred relationship Some 1
Persistent lanugo Occurrence False Congenital Inferred relationship Some 3
Common arterial trunk with pulmonary arteries arising from trunk and unobstructed aortic arch (disorder) Occurrence False Congenital Inferred relationship Some 4
Trigonocephaly Occurrence False Congenital Inferred relationship Some 3
Congenital cerebellar cortical atrophy (disorder) Occurrence True Congenital Inferred relationship Some 2
Aortic left ventricular tunnel with right coronary artery from tunnel (disorder) Occurrence True Congenital Inferred relationship Some 3
Congenital abnormal fusion of adrenal glands Occurrence False Congenital Inferred relationship Some 2
Congenital anomaly of aortic arch Occurrence False Congenital Inferred relationship Some 2
Anomalous origin of ductus arteriosus from aortic diverticulum (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital duodenal obstruction due to annular pancreas Occurrence False Congenital Inferred relationship Some 3
Truncus arteriosus, Edwards' type IV Occurrence False Congenital Inferred relationship Some 4
Lack of ossification of interparietal bone Occurrence True Congenital Inferred relationship Some 2
érythrokératodermie, trichorrhexie noueuse et dermatite atopique Occurrence False Congenital Inferred relationship Some 2
Congenital anomaly of cerebral artery Occurrence False Congenital Inferred relationship Some 2
Aberrant course of coronary artery between aorta and pulmonary trunk Occurrence False Congenital Inferred relationship Some 2
Robinson nail dystrophy-deafness syndrome Occurrence True Congenital Inferred relationship Some 3
Congenital vascular malformation due to inherited syndrome (disorder) Occurrence False Congenital Inferred relationship Some 2
Fibrous skin tumor of tuberous sclerosis Occurrence True Congenital Inferred relationship Some 3
Multiple lentigines syndrome Occurrence False Congenital Inferred relationship Some 3
Congenital abnormal fusion of parietal bone Occurrence False Congenital Inferred relationship Some 2
Specific mixed vascular syndrome Occurrence False Congenital Inferred relationship Some 2
Congenital hypoplasia of basioccipital bone Occurrence False Congenital Inferred relationship Some 2
Congenital abnormal fusion of supraoccipital bone Occurrence False Congenital Inferred relationship Some 3
Vascular ring with mirror image branching of right aortic arch and left ligamentum arteriosum (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of frontal bone Occurrence False Congenital Inferred relationship Some 2
Developmental malformation of branchial arch (disorder) Occurrence False Congenital Inferred relationship Some 3
Capillary-venous-lymphatic malformation Occurrence False Congenital Inferred relationship Some 4
Congenital obstruction of large intestine Occurrence False Congenital Inferred relationship Some 2
Hennekam lymphangiectasia-lymphedema syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital fenestration of interparietal bone Occurrence False Congenital Inferred relationship Some 2
Congenital failure of fusion between maxillary and mandibular processes (disorder) Occurrence True Congenital Inferred relationship Some 2
Severe ichthyoses Occurrence False Congenital Inferred relationship Some 2
Coronary artery runs between aorta and pulmonary trunk Occurrence False Congenital Inferred relationship Some 2
Congenital pulmonary venous atrium Occurrence False Congenital Inferred relationship Some 2
Fronto-parietal craniofaciosynostosis Occurrence False Congenital Inferred relationship Some 3
Anomalous intramural course of proximal portion of coronary artery across commissure of aortic valve Occurrence True Congenital Inferred relationship Some 1
Congenital abnormal fusion of maxilla Occurrence False Congenital Inferred relationship Some 2
Congenital anomaly of zygomatic bone Occurrence False Congenital Inferred relationship Some 2
Congenital anomaly of presphenoid bone Occurrence False Congenital Inferred relationship Some 3
Congenital volvulus Occurrence True Congenital Inferred relationship Some 2
Café-au-lait macules with temporal dysrhythmia (disorder) Occurrence True Congenital Inferred relationship Some 2
Incomplete ossification of nasal bone Occurrence False Congenital Inferred relationship Some 2
Port-wine stain in proteus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Right dominant coronary system Occurrence False Congenital Inferred relationship Some 2
Left ventricular outflow tract obstruction due to fibromuscular tunnel (disorder) Occurrence False Congenital Inferred relationship Some 2
Incomplete ossification of zygomatic bone Occurrence False Congenital Inferred relationship Some 2

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