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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
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. Occurrence False Congenital Inferred relationship Some 1
Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. Occurrence False Congenital Inferred relationship Some 1
Congenital conductive hearing loss Occurrence False Congenital Inferred relationship Some 3
Congenital hallux valgus of left great toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hallux valgus of right great toe (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital trigger thumb of bilateral hands Occurrence False Congenital Inferred relationship Some 2
Congenital trigger thumb of bilateral hands Occurrence False Congenital Inferred relationship Some 3
Congenital trigger finger of right hand Occurrence True Congenital Inferred relationship Some 1
Congenital trigger finger of left hand (disorder) Occurrence True Congenital Inferred relationship Some 1
Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. Occurrence True Congenital Inferred relationship Some 1
Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee. Occurrence True Congenital Inferred relationship Some 1
Bilateral multicystic renal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral multicystic renal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 3
Congenital hypoplasia of odontoid process of axis Occurrence True Congenital Inferred relationship Some 1
Hypoplasia of sacrum (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital absence of forearm and hand Occurrence False Congenital Inferred relationship Some 4
Congenital absence of forearm and hand Occurrence False Congenital Inferred relationship Some 5
Congenital absence of forearm and hand Occurrence False Congenital Inferred relationship Some 6
Autosomal dominant hereditary spastic paraplegia Occurrence False Congenital Inferred relationship Some 2
Longitudinal deficiency of upper and lower limbs Occurrence True Congenital Inferred relationship Some 2
Longitudinal deficiency of upper and lower limbs Occurrence False Congenital Inferred relationship Some 3
Congenital mixed conductive and sensorineural hearing loss Occurrence False Congenital Inferred relationship Some 2
A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth. Occurrence True Congenital Inferred relationship Some 1
Lop ear deformity Occurrence True Congenital Inferred relationship Some 1
Congenital hyperplasia of lung Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of large intestine (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of atrioventricular valve Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of atrioventricular septum Occurrence True Congenital Inferred relationship Some 1
Aplasia of patella Occurrence True Congenital Inferred relationship Some 1
Congenital thrombocytopenia (disorder) Occurrence True Congenital Inferred relationship Some 1
Pericarditis secondary to Mulibrey nanism (disorder) Occurrence False Congenital Inferred relationship Some 4
Congenital absence of right mandibular condyle Occurrence True Congenital Inferred relationship Some 1
Congenital absence of left mandibular condyle Occurrence True Congenital Inferred relationship Some 1
Pseudovaginal perineoscrotal hypospadias Occurrence False Congenital Inferred relationship Some 4
Retinitis pigmentosa-deafness syndrome Occurrence True Congenital Inferred relationship Some 2
Retinitis pigmentosa-deafness-ataxia syndrome Occurrence True Congenital Inferred relationship Some 2
Goldenhar syndrome Occurrence True Congenital Inferred relationship Some 1
Gorlin-Chaudhry-Moss syndrome Occurrence True Congenital Inferred relationship Some 1
Oculo-palato-digital syndrome Occurrence True Congenital Inferred relationship Some 1
Oculo-palato-digital syndrome Occurrence True Congenital Inferred relationship Some 2
Usher syndrome type 1 Occurrence True Congenital Inferred relationship Some 2
Usher syndrome type 2 Occurrence True Congenital Inferred relationship Some 2
hypogonadisme, diabète sucré, alopécie, arriération mentale et anomalies électrocardiographiques Occurrence False Congenital Inferred relationship Some 1
Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Occurrence True Congenital Inferred relationship Some 4
Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Occurrence True Congenital Inferred relationship Some 5
Oculodento-osseous dysplasia Occurrence True Congenital Inferred relationship Some 1
Oculodento-osseous dysplasia Occurrence False Congenital Inferred relationship Some 3
Floating-Harbor syndrome Occurrence True Congenital Inferred relationship Some 1
Kabuki make-up syndrome Occurrence True Congenital Inferred relationship Some 1
Renal coloboma syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Renal coloboma syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Solitary median maxillary central incisor syndrome Occurrence True Congenital Inferred relationship Some 2
Solitary median maxillary central incisor syndrome Occurrence True Congenital Inferred relationship Some 3
Francois syndrome Occurrence True Congenital Inferred relationship Some 2
A group of autosomal recessive disorders affecting the formation of functional peroxisomes, with characteristics of sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment and is comprised of the phenotypic variants Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. Impaired metabolism results in the accumulation of very-long-chain fatty acids which damage developing neural cells. Accumulation of toxic bile acid intermediates damages the liver. The decreased synthesis of docosahexanoic acid (DHA) and ether phospholipids (plasmalogens) impairs cell membranes. Occurrence True Congenital Inferred relationship Some 1
Isolated follicle stimulating hormone deficiency Occurrence True Congenital Inferred relationship Some 1
Congenital cyst of orbit (disorder) Occurrence True Congenital Inferred relationship Some 2
Multiple non-ossifying fibromatosis Occurrence False Congenital Inferred relationship Some 1
Congenital cardiovascular disorder (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital bronchogenic cyst Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of zonula Occurrence True Congenital Inferred relationship Some 1
Cleft hard palate with left cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 2
Cleft hard palate with left cleft lip (disorder) Occurrence False Congenital Inferred relationship Some 3
Cleft hard palate with right cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 2
Cleft hard palate with right cleft lip (disorder) Occurrence False Congenital Inferred relationship Some 3
Cleft soft palate with left cleft lip Occurrence True Congenital Inferred relationship Some 2
Cleft soft palate with left cleft lip Occurrence False Congenital Inferred relationship Some 3
Cleft soft palate with right cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 2
Cleft soft palate with right cleft lip (disorder) Occurrence False Congenital Inferred relationship Some 3
Cleft hard and soft palate with left cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 3
Cleft hard and soft palate with left cleft lip (disorder) Occurrence False Congenital Inferred relationship Some 4
Cleft hard and soft palate with left cleft lip (disorder) Occurrence False Congenital Inferred relationship Some 5
Cleft hard and soft palate with right cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 3
Cleft hard and soft palate with right cleft lip (disorder) Occurrence False Congenital Inferred relationship Some 4
Cleft hard and soft palate with right cleft lip (disorder) Occurrence False Congenital Inferred relationship Some 5
Cleft palate with left cleft lip Occurrence True Congenital Inferred relationship Some 2
Cleft palate with left cleft lip Occurrence False Congenital Inferred relationship Some 3
Cleft palate with right cleft lip Occurrence True Congenital Inferred relationship Some 2
Cleft palate with right cleft lip Occurrence False Congenital Inferred relationship Some 3
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery Occurrence False Congenital Inferred relationship Some 7
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery Occurrence False Congenital Inferred relationship Some 8
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery Occurrence False Congenital Inferred relationship Some 9
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery Occurrence False Congenital Inferred relationship Some 10
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery Occurrence False Congenital Inferred relationship Some 11
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery Occurrence False Congenital Inferred relationship Some 12
Haemodynamically insignificant ventricular septal defect Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of great vessel Occurrence True Congenital Inferred relationship Some 1
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type (disorder) Occurrence False Congenital Inferred relationship Some 3
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type (disorder) Occurrence False Congenital Inferred relationship Some 4
Common arterial trunk with aortic dominance (disorder) Occurrence True Congenital Inferred relationship Some 2
Common arterial trunk with aortic dominance (disorder) Occurrence False Congenital Inferred relationship Some 3
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder) Occurrence False Congenital Inferred relationship Some 4
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder) Occurrence False Congenital Inferred relationship Some 5
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder) Occurrence False Congenital Inferred relationship Some 6
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder) Occurrence False Congenital Inferred relationship Some 7
Congenital dysplasia of tricuspid valve Occurrence True Congenital Inferred relationship Some 1
Fetal intrauterine intestinal perforation co-occurrent and due to congenital stenosis of intestinal tract Occurrence False Congenital Inferred relationship Some 4
Fetal intrauterine intestinal perforation co-occurrent and due to congenital atresia of intestinal tract (disorder) Occurrence False Congenital Inferred relationship Some 3
Congenital obstructive hydrocephalus Occurrence True Congenital Inferred relationship Some 1
Microphthalmic socket (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft hard palate with bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Occurrence True Congenital Inferred relationship Some 4

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