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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
Mixed gonadal dysgenesis Occurrence False Congenital Inferred relationship Some
14q partial proximal trisomy syndrome (disorder) Occurrence False Congenital Inferred relationship Some
Ehlers-Danlos syndrome, dysfibronectinemic Occurrence False Congenital Inferred relationship Some
Congenital mandibular hypoplasia Occurrence False Congenital Inferred relationship Some
Congenital microgastria Occurrence False Congenital Inferred relationship Some
6p partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Maxillary retrognathism Occurrence False Congenital Inferred relationship Some
Corrected transposition of great vessels Occurrence False Congenital Inferred relationship Some
Congenital anomaly of ear Occurrence False Congenital Inferred relationship Some
Agnathus Occurrence False Congenital Inferred relationship Some
Metachromatic leukodystrophy without arylsulfatase deficiency Occurrence False Congenital Inferred relationship Some
Indicanuria Occurrence False Congenital Inferred relationship Some
Infantile pelvis Occurrence False Congenital Inferred relationship Some
Congenital absence of skull bone Occurrence False Congenital Inferred relationship Some
Amniotic band syndrome Occurrence False Congenital Inferred relationship Some
Iminoglycinuria Occurrence False Congenital Inferred relationship Some
Arteriovenous malformation of liver Occurrence False Congenital Inferred relationship Some
chondrodystrophie malacique Occurrence False Congenital Inferred relationship Some
Trehalase deficiency Occurrence True Congenital Inferred relationship Some 1
Muscle carnitine deficiency Occurrence False Congenital Inferred relationship Some
Congenital atresia of small intestine Occurrence False Congenital Inferred relationship Some
Congenital accessory skin tag Occurrence False Congenital Inferred relationship Some
Exencephaly Occurrence True Congenital Inferred relationship Some 2
Congenital anomaly of skeletal bone Occurrence False Congenital Inferred relationship Some
Bifid tongue Occurrence False Congenital Inferred relationship Some
Pygodidymus Occurrence False Congenital Inferred relationship Some
Polysyndactyly Occurrence False Congenital Inferred relationship Some
Acardius Occurrence False Congenital Inferred relationship Some
Anomaly of chromosome pair 4 Occurrence False Congenital Inferred relationship Some
Restrictive cardiomyopathy due to mucopolysaccharidosis Occurrence False Congenital Inferred relationship Some
Mottled teeth, congenital Occurrence False Congenital Inferred relationship Some
Congenital anomaly of lower limb Occurrence False Congenital Inferred relationship Some
Sporadic cretinism Occurrence False Congenital Inferred relationship Some
Streak gonad Occurrence False Congenital Inferred relationship Some
Chester-type porphyria Occurrence False Congenital Inferred relationship Some
Multiple exostoses syndrome Occurrence False Congenital Inferred relationship Some
Dural arteriovenous malformation Occurrence False Congenital Inferred relationship Some
Congenital absence of radius Occurrence False Congenital Inferred relationship Some
Facial palsy as birth trauma Occurrence False Congenital Inferred relationship Some
Congenital melanocytic nevus Occurrence False Congenital Inferred relationship Some
Congenital volvulus of stomach Occurrence False Congenital Inferred relationship Some
Cystinuria Occurrence False Congenital Inferred relationship Some
Congenital anomaly of fallopian tubes Occurrence False Congenital Inferred relationship Some
Common arterial trunk and widely separate origin of pulmonary arteries (disorder) Occurrence False Congenital Inferred relationship Some
Splayleg in piglets Occurrence False Congenital Inferred relationship Some
Congenital anomaly of vitreous body Occurrence False Congenital Inferred relationship Some
Uterus bicameratus vetularum Occurrence False Congenital Inferred relationship Some
kyste pilonidal abcédé Occurrence False Congenital Inferred relationship Some
Congenital hammer toe Occurrence False Congenital Inferred relationship Some
Congenital hypoplasia of testis Occurrence False Congenital Inferred relationship Some
Disorder of pyrimidine metabolism Occurrence False Congenital Inferred relationship Some
Dicephalus dipus tetrabrachius Occurrence False Congenital Inferred relationship Some
Color changes during tooth formation Occurrence False Congenital Inferred relationship Some
Renal phosphaturia Occurrence True Congenital Inferred relationship Some 1
Radial aplasia-thrombocytopenia syndrome Occurrence False Congenital Inferred relationship Some
Craniopagus occipitalis Occurrence False Congenital Inferred relationship Some
Hemianencephaly Occurrence False Congenital Inferred relationship Some
Syncephalus Occurrence False Congenital Inferred relationship Some
Supernumerary eye muscle Occurrence False Congenital Inferred relationship Some
Microhepatia Occurrence False Congenital Inferred relationship Some
Congenital duodenal obstruction due to annular pancreas Occurrence False Congenital Inferred relationship Some
Congenital diverticulum of colon Occurrence False Congenital Inferred relationship Some
Megacalycosis Occurrence False Congenital Inferred relationship Some
Congenital melanosis Occurrence True Congenital Inferred relationship Some 1
Inborn error of metabolism Occurrence True Congenital Inferred relationship Some 1
Kuru Occurrence False Congenital Inferred relationship Some
Immotile cilia syndrome Occurrence False Congenital Inferred relationship Some
Agenesis of pulmonary artery Occurrence False Congenital Inferred relationship Some
Achondroplasia Occurrence False Congenital Inferred relationship Some
Thoracomelus Occurrence False Congenital Inferred relationship Some
Porphyria Occurrence False Congenital Inferred relationship Some
Tetralogy of Fallot Occurrence False Congenital Inferred relationship Some
Schwartz syndrome Occurrence False Congenital Inferred relationship Some
Distichiasis-lymphedema syndrome Occurrence False Congenital Inferred relationship Some
Bertolotti's syndrome Occurrence False Congenital Inferred relationship Some
Congenital hernia of foramen of Bochdalek Occurrence False Congenital Inferred relationship Some
Hutchinson's teeth Occurrence False Congenital Inferred relationship Some
Niemann-Pick disease, type C, acute form Occurrence True Congenital Inferred relationship Some 1
Solitary multilocular renal cyst Occurrence False Congenital Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal Occurrence False Congenital Inferred relationship Some
Congenital anomaly of thoracic cage Occurrence False Congenital Inferred relationship Some
Congenital absence of gallbladder Occurrence False Congenital Inferred relationship Some
Hypoplasia of eye Occurrence False Congenital Inferred relationship Some
Ectodermal dysplasia Occurrence False Congenital Inferred relationship Some
Renal glycinuria, de Vries type Occurrence False Congenital Inferred relationship Some
Platybasia Occurrence False Congenital Inferred relationship Some
Congenital mesocolic hernia Occurrence False Congenital Inferred relationship Some
Frontonasal dysplasia sequence Occurrence False Congenital Inferred relationship Some
Dipodia Occurrence False Congenital Inferred relationship Some
Kasabach-Merritt syndrome Occurrence False Congenital Inferred relationship Some
Ehlers-Danlos syndrome, dominant type 4 Occurrence False Congenital Inferred relationship Some
Congenital ankylosis of elbow Occurrence False Congenital Inferred relationship Some
G-6-PD variant enzyme deficiency anemia Occurrence True Congenital Inferred relationship Some 4
Abnormal fetus Occurrence False Congenital Inferred relationship Some
Angioectopia Occurrence False Congenital Inferred relationship Some
Bird tongue Occurrence False Congenital Inferred relationship Some
Congenital anomaly of rectum Occurrence False Congenital Inferred relationship Some
Dilated cardiomyopathy due to mucopolysaccharidosis Occurrence False Congenital Inferred relationship Some
An autosomal anomaly characterised by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases. Occurrence False Congenital Inferred relationship Some
Congenital cyst of esophagus Occurrence False Congenital Inferred relationship Some
Salla disease Occurrence False Congenital Inferred relationship Some

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