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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
Osteogenesis imperfecta, dominant perinatal lethal Occurrence False Congenital Inferred relationship Some
Absent finger Occurrence False Congenital Inferred relationship Some
Dipygus Occurrence False Congenital Inferred relationship Some
Celoschisis Occurrence False Congenital Inferred relationship Some
Macrodontia Occurrence False Congenital Inferred relationship Some
Congenital absence of ear Occurrence False Congenital Inferred relationship Some
Congenital supravalvular aortic stenosis Occurrence False Congenital Inferred relationship Some
Maple syrup urine disease, multiple dehydrogenase form Occurrence True Congenital Inferred relationship Some 1
Complete trisomy 22 syndrome Occurrence False Congenital Inferred relationship Some
Accessory liver Occurrence False Congenital Inferred relationship Some
Lysinuric protein intolerance, type 2 Occurrence False Congenital Inferred relationship Some
X-linked hydrocephalus syndrome Occurrence False Congenital Inferred relationship Some
Anophthalmos Occurrence False Congenital Inferred relationship Some
Congenital contracted pelvis Occurrence False Congenital Inferred relationship Some
déficit immunitaire combiné sévère dû à l'absence d'antigènes leucocytaires humains de classe II Occurrence False Congenital Inferred relationship Some 2
Congenital anomaly of broad ligament Occurrence False Congenital Inferred relationship Some
Congenital aplasia of inner ear Occurrence False Congenital Inferred relationship Some
Aase syndrome Occurrence False Congenital Inferred relationship Some
Tuberous sclerosis syndrome Occurrence False Congenital Inferred relationship Some
Abnormal fetal duplication Occurrence False Congenital Inferred relationship Some
Congenital deformity of nose (disorder) Occurrence False Congenital Inferred relationship Some
Long narrow head Occurrence False Congenital Inferred relationship Some
Postductal coarctation of aorta Occurrence False Congenital Inferred relationship Some
Congenital hypoplasia of cardiac vein Occurrence False Congenital Inferred relationship Some
Inborn error of glutathione metabolism (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of larynx (disorder) Occurrence False Congenital Inferred relationship Some
Bicuspid aortic valve Occurrence False Congenital Inferred relationship Some
Congenital absence of diaphragm Occurrence False Congenital Inferred relationship Some
Bilateral left-sidedness sequence Occurrence False Congenital Inferred relationship Some
Niemann-Pick disease, type C, chronic form Occurrence True Congenital Inferred relationship Some 1
X-linked ichthyosis with steryl-sulfatase deficiency Occurrence False Congenital Inferred relationship Some
Cervical rib Occurrence False Congenital Inferred relationship Some
Hydroxymethylglutaryl-CoA lyase deficiency Occurrence False Congenital Inferred relationship Some
Mucopolysaccharidosis, MPS-IV-A Occurrence False Congenital Inferred relationship Some 2
Uterus bicornis bicollis Occurrence False Congenital Inferred relationship Some
Glycogen storage disease, type I Occurrence True Congenital Inferred relationship Some 1
Isolated xanthine oxidase deficiency Occurrence False Congenital Inferred relationship Some
syndrome de Grönblad-Strandberg Occurrence False Congenital Inferred relationship Some
Vitamin D-dependent rickets, type 2 Occurrence True Congenital Inferred relationship Some 1
Congenital prognathism Occurrence False Congenital Inferred relationship Some
Megaloappendix Occurrence False Congenital Inferred relationship Some
Moore-Federman syndrome Occurrence False Congenital Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Occurrence False Congenital Inferred relationship Some
Congenital cystic disease of liver Occurrence False Congenital Inferred relationship Some
Kynureninase deficiency Occurrence False Congenital Inferred relationship Some
Congenital anomaly of epiglottis Occurrence False Congenital Inferred relationship Some
Gastroschisis Occurrence False Congenital Inferred relationship Some
Polyploidy syndrome Occurrence False Congenital Inferred relationship Some
Thoracogenic scoliosis Occurrence False Congenital Inferred relationship Some
10q partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Coarctation of aorta Occurrence False Congenital Inferred relationship Some
Mucopolysaccharidosis, MPS-I-S Occurrence True Congenital Inferred relationship Some 1
Hunter's syndrome, severe form Occurrence True Congenital Inferred relationship Some 1
Pena-Shokeir phenotype Occurrence False Congenital Inferred relationship Some
Accessory adrenal cortex Occurrence False Congenital Inferred relationship Some
Mousepox Occurrence False Congenital Inferred relationship Some
Congenital anomaly of the urinary system Occurrence False Congenital Inferred relationship Some
Marshall-Smith syndrome Occurrence False Congenital Inferred relationship Some
Congenital absence of parathyroid gland Occurrence False Congenital Inferred relationship Some
Hemimyelia Occurrence False Congenital Inferred relationship Some 4
maladie de Niemann-Pick type E Occurrence False Congenital Inferred relationship Some 1
Opocephalus Occurrence False Congenital Inferred relationship Some
Congenital absence of germinal epithelium of testes (disorder) Occurrence False Congenital Inferred relationship Some
Adolescent postural kyphosis Occurrence False Congenital Inferred relationship Some
Congenital anomaly of musculoskeletal system Occurrence False Congenital Inferred relationship Some
Congenital subaortic stenosis Occurrence False Congenital Inferred relationship Some
Disorder of central nervous system due to xeroderma pigmentosum Occurrence False Congenital Inferred relationship Some
Double outlet left ventricle Occurrence False Congenital Inferred relationship Some
Common arterial trunk and common origin of pulmonary arteries (disorder) Occurrence False Congenital Inferred relationship Some
Congenital cutaneous angiomatosis Occurrence False Congenital Inferred relationship Some
Cobalamin A disease Occurrence False Congenital Inferred relationship Some
Adult GM>1< gangliosidosis Occurrence False Congenital Inferred relationship Some
Cutis laxa with osteodystrophy Occurrence False Congenital Inferred relationship Some
Metabolic disease of collagen Occurrence False Congenital Inferred relationship Some
Perinataler Ikterus verursacht durch Gallenpfropf-Syndrom Occurrence False Congenital Inferred relationship Some
Chronic tophaceous gout (disorder) Occurrence False Congenital Inferred relationship Some
Congenital toxoplasmosis Occurrence False Congenital Inferred relationship Some
Congenital malposition of digestive organs Occurrence False Congenital Inferred relationship Some
5p partial trisomy Occurrence False Congenital Inferred relationship Some
Congenital anomaly of pituitary gland Occurrence False Congenital Inferred relationship Some
Dextrokardie Occurrence False Congenital Inferred relationship Some
Cerebellar hemangioblastomatosis Occurrence False Congenital Inferred relationship Some
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Occurrence False Congenital Inferred relationship Some
Partial tetrasomy of chromosome 9 (disorder) Occurrence False Congenital Inferred relationship Some
Coronary artery arising from main pulmonary artery Occurrence False Congenital Inferred relationship Some
Congenital scar Occurrence False Congenital Inferred relationship Some
Congenital absence of fibula Occurrence False Congenital Inferred relationship Some
Hereditary coproporphyria Occurrence False Congenital Inferred relationship Some
Female infertility due to structural congenital anomaly of cervix Occurrence False Congenital Inferred relationship Some
Opodidymus Occurrence False Congenital Inferred relationship Some
Woolf's syndrome Occurrence False Congenital Inferred relationship Some
Congenital chromosomal disease Occurrence False Congenital Inferred relationship Some
Complete trisomy 9 syndrome Occurrence False Congenital Inferred relationship Some
Micromelia Occurrence False Congenital Inferred relationship Some
Congenital atresia of aorta Occurrence False Congenital Inferred relationship Some
Manus flexa Occurrence False Congenital Inferred relationship Some
XX males Occurrence False Congenital Inferred relationship Some
Craniopagus Occurrence False Congenital Inferred relationship Some
Kommerell's diverticulum Occurrence False Congenital Inferred relationship Some
Diplopodia Occurrence False Congenital Inferred relationship Some
Crossed renal ectopia Occurrence False Congenital Inferred relationship Some

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This concept is not in any reference sets

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