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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
Severe hereditary spherocytosis due to spectrin deficiency Occurrence False Congenital Inferred relationship Some
Cheilognathoschisis Occurrence False Congenital Inferred relationship Some
Synotus Occurrence False Congenital Inferred relationship Some
Congenital biliary atresia Occurrence False Congenital Inferred relationship Some
3p partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
9p partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Grebe syndrome Occurrence False Congenital Inferred relationship Some
Congenital bronchiectasis Occurrence False Congenital Inferred relationship Some
Reduction deformity of lower limb Occurrence False Congenital Inferred relationship Some
Baller-Gerold syndrome Occurrence False Congenital Inferred relationship Some
Paraspadias Occurrence False Congenital Inferred relationship Some
Dicephalus dipus tribrachius Occurrence False Congenital Inferred relationship Some
8p partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Double aortic valve Occurrence False Congenital Inferred relationship Some
Multiple malformation syndrome, moderate short stature, facial Occurrence False Congenital Inferred relationship Some
Storage disease of the lung Occurrence False Congenital Inferred relationship Some
Congenital absence of ureter Occurrence False Congenital Inferred relationship Some
Syphilitic saddle nose Occurrence False Congenital Inferred relationship Some
Congenital renal dysplasia Occurrence False Congenital Inferred relationship Some
Complete trisomy 10 syndrome Occurrence False Congenital Inferred relationship Some
Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Occurrence False Congenital Inferred relationship Some
Cervical malformation - malarticulation Occurrence False Congenital Inferred relationship Some
anomalie congénitale de l'appareil respiratoire Occurrence False Congenital Inferred relationship Some
Simple renal cyst Occurrence False Congenital Inferred relationship Some
A rare genetic multi-system disorder characterised by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease. Occurrence False Congenital Inferred relationship Some
Pygomelus Occurrence False Congenital Inferred relationship Some
Persistent left superior vena cava Occurrence False Congenital Inferred relationship Some
Complete phocomelia of upper limb Occurrence False Congenital Inferred relationship Some
Atlanto-occipital malformation Occurrence False Congenital Inferred relationship Some
Non-neurologic xeroderma pigmentosum Occurrence False Congenital Inferred relationship Some
Hydromicrocephaly Occurrence False Congenital Inferred relationship Some
Glycoprotein storage disorder Occurrence True Congenital Inferred relationship Some 1
Double mitral valve Occurrence False Congenital Inferred relationship Some
Ectopia cordis Occurrence False Congenital Inferred relationship Some
Tuberculum paramolare Occurrence False Congenital Inferred relationship Some
Histidine transport defect Occurrence False Congenital Inferred relationship Some
Osteogenesis imperfecta Occurrence False Congenital Inferred relationship Some
XXXY syndrome Occurrence False Congenital Inferred relationship Some
Quadricuspid cardiac valve Occurrence False Congenital Inferred relationship Some
Intrahepatic gallbladder (disorder) Occurrence False Congenital Inferred relationship Some
Congenital hypoplasia of finger (disorder) Occurrence False Congenital Inferred relationship Some
Acyanotic congenital heart disease Occurrence False Congenital Inferred relationship Some
Cleft leaflet of mitral valve Occurrence False Congenital Inferred relationship Some
Accessory hepatic duct Occurrence False Congenital Inferred relationship Some
Neurocutaneous syndrome Occurrence False Congenital Inferred relationship Some
Gamma-glutamyl transpeptidase deficiency Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of trunk Occurrence False Congenital Inferred relationship Some
Ocular albinism, type I Occurrence False Congenital Inferred relationship Some
Stickler syndrome Occurrence False Congenital Inferred relationship Some
Congenital hypoplasia of part of brain Occurrence False Congenital Inferred relationship Some
Gastrothoracopagus Occurrence False Congenital Inferred relationship Some
Complete monosomy 21 (disorder) Occurrence False Congenital Inferred relationship Some
Globulo-maxillary cyst Occurrence False Congenital Inferred relationship Some
Amyelia Occurrence False Congenital Inferred relationship Some 4
Autosomal recessive ocular albinism Occurrence False Congenital Inferred relationship Some
Dextroposition of ductus arteriosus Occurrence False Congenital Inferred relationship Some
Pancreatic triacylglycerol lipase deficiency Occurrence True Congenital Inferred relationship Some 1
Hallermann-Streiff syndrome Occurrence False Congenital Inferred relationship Some
Accessory pancreas Occurrence False Congenital Inferred relationship Some
Cylindrical embryo Occurrence False Congenital Inferred relationship Some
Congenital elevation of scapula Occurrence False Congenital Inferred relationship Some
Cyclopic monster Occurrence False Congenital Inferred relationship Some
Congenital genu varum Occurrence False Congenital Inferred relationship Some
Congenital absence of tibia Occurrence False Congenital Inferred relationship Some
Congenital anomaly of muscle AND/OR tendon Occurrence False Congenital Inferred relationship Some
Creutzfeldt-Jakob disease Occurrence False Congenital Inferred relationship Some
Congenital deformity of clavicle Occurrence False Congenital Inferred relationship Some
Bifid patella Occurrence False Congenital Inferred relationship Some
Compression of umbilical cord Occurrence False Congenital Inferred relationship Some
Lumbosacral prespondylolisthesis Occurrence False Congenital Inferred relationship Some
Van der Woude syndrome Occurrence False Congenital Inferred relationship Some
Congenital absence of lacrimal apparatus Occurrence False Congenital Inferred relationship Some
Expanded rubella syndrome Occurrence False Congenital Inferred relationship Some
Lowe syndrome Occurrence False Congenital Inferred relationship Some
Asymmetric talipes Occurrence False Congenital Inferred relationship Some
Congenital cataract Occurrence False Congenital Inferred relationship Some
Autosomal dominant oculocutaneous albinism Occurrence False Congenital Inferred relationship Some
Freemartin Occurrence False Congenital Inferred relationship Some
Congenital anomaly of aortic arch Occurrence False Congenital Inferred relationship Some
Familial benign pemphigus Occurrence False Congenital Inferred relationship Some
Congenital displacement of esophagus Occurrence False Congenital Inferred relationship Some
Congenital duplication of liver Occurrence False Congenital Inferred relationship Some
Congenital hepatic fibrosis Occurrence False Congenital Inferred relationship Some
Congenital listeriosis Occurrence False Congenital Inferred relationship Some
1q partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Anomaly of chromosome pair 19 Occurrence False Congenital Inferred relationship Some
Wildervanck syndrome Occurrence False Congenital Inferred relationship Some
Vasa previa Occurrence False Congenital Inferred relationship Some
Monocephalus tetrapus dibrachius Occurrence False Congenital Inferred relationship Some
Congenital anomaly of teeth Occurrence False Congenital Inferred relationship Some
Atresia of urinary meatus Occurrence False Congenital Inferred relationship Some
Congenital leptomeningeal angiomatosis Occurrence False Congenital Inferred relationship Some
Talipes valgus Occurrence False Congenital Inferred relationship Some
Blepharophimosis syndrome Occurrence False Congenital Inferred relationship Some
Congenital junctional epidermolysis bullosa Occurrence False Congenital Inferred relationship Some
Mirror hands Occurrence False Congenital Inferred relationship Some
Farber's lipogranulomatosis Occurrence False Congenital Inferred relationship Some 2
Congenital hallux varus Occurrence False Congenital Inferred relationship Some
Congenital atresia of broad ligament Occurrence False Congenital Inferred relationship Some
Rudimentary patella Occurrence False Congenital Inferred relationship Some
Known OR suspected fetal hydrocephalus affecting obstetrical care Occurrence False Congenital Inferred relationship Some

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