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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
Ehlers-Danlos syndrome, hydroxylysine-deficient Occurrence True Congenital Inferred relationship Some 1
Congenital obstruction of small intestine Occurrence True Congenital Inferred relationship Some 1
Robinson nail dystrophy-deafness syndrome Occurrence True Congenital Inferred relationship Some 6
Coarctation of pulmonary artery Occurrence True Congenital Inferred relationship Some 1
Congenital syphilitic periostitis Occurrence True Congenital Inferred relationship Some 1
Ascher's syndrome Occurrence True Congenital Inferred relationship Some 1
Ascher's syndrome Occurrence True Congenital Inferred relationship Some 2
Schwartz-Jampel syndrome Occurrence True Congenital Inferred relationship Some 2
Schwartz-Jampel syndrome Occurrence True Congenital Inferred relationship Some 3
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism Occurrence True Congenital Inferred relationship Some 3
Autosomal dominant hypophosphatemic rickets Occurrence False Congenital Inferred relationship Some 3
Autosomal dominant hypophosphataemic bone disease Occurrence False Congenital Inferred relationship Some 3
Mucopolysaccharidosis, MPS-IV-B Occurrence True Congenital Inferred relationship Some 1
A rare hyaline fibromatosis syndrome with characteristics of papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. Occurrence True Congenital Inferred relationship Some 1
Juvenile elastofibromatosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypohidrotic X-linked ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 4
Roselli-Gulienetti ectodermal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 4
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 4
Basan syndrome Occurrence True Congenital Inferred relationship Some 4
Greither type of ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 4
Tricho-onychodental dysplasia Occurrence True Congenital Inferred relationship Some 4
syndrome de Schoef-Schulz-Passage Occurrence False Congenital Inferred relationship Some 4
Odonto-onychial dysplasia with alopecia Occurrence True Congenital Inferred relationship Some 6
Fried's tooth and nail syndrome Occurrence True Congenital Inferred relationship Some 4
dysplasie dermodentaire Occurrence False Congenital Inferred relationship Some 4
Salamon's syndrome Occurrence True Congenital Inferred relationship Some 4
Ectodermal dysplasia, syndactyly and pili torti Occurrence True Congenital Inferred relationship Some 4
Dwarfism, alopecia, pseudoanodontia, cutis laxa Occurrence True Congenital Inferred relationship Some 4
Hypohidrosis-diabetes insipidus syndrome Occurrence True Congenital Inferred relationship Some 5
Hypohidrosis-diabetes insipidus syndrome Occurrence True Congenital Inferred relationship Some 7
Odontotrichomelic syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
syndrome dento-oculocutané Occurrence False Congenital Inferred relationship Some 4
Hair follicle naevus Occurrence True Congenital Inferred relationship Some 1
Persistent vertical vein Occurrence True Congenital Inferred relationship Some 1
Right hypoplastic heart syndrome Occurrence True Congenital Inferred relationship Some 1
Curry-Hall syndrome Occurrence True Congenital Inferred relationship Some 4
Dental midlines coincident and incorrect Occurrence False Congenital Inferred relationship Some 2
Goniodysgenesis (disorder) Occurrence True Congenital Inferred relationship Some 1
Defect of telencephalic division Occurrence True Congenital Inferred relationship Some 1
Hydranencephaly with proliferative vasculopathy Occurrence True Congenital Inferred relationship Some 1
Schizencephaly Occurrence True Congenital Inferred relationship Some 1
Double inlet right ventricle Occurrence True Congenital Inferred relationship Some 1
Double inlet left ventricle Occurrence True Congenital Inferred relationship Some 1
Right sided atrium connecting to ventricle of indeterminate morphology Occurrence True Congenital Inferred relationship Some 1
Double outlet right ventricle with subaortic ventricular septal defect Occurrence True Congenital Inferred relationship Some 1
Double outlet right ventricle with noncommitted ventricular septal defect Occurrence True Congenital Inferred relationship Some 1
Double outlet right ventricle with doubly committed ventricular septal defect Occurrence True Congenital Inferred relationship Some 1
Atrial septal defect through coronary sinus orifice Occurrence True Congenital Inferred relationship Some 2
Double orifice of tricuspid valve Occurrence True Congenital Inferred relationship Some 1
Ebstein-like downward displacement of mitral valve Occurrence True Congenital Inferred relationship Some 1
Double outlet left atrium Occurrence True Congenital Inferred relationship Some 1
Ebstein's anomaly of right atrioventricular valve Occurrence True Congenital Inferred relationship Some 1
Ebstein's anomaly of left atrioventricular valve Occurrence True Congenital Inferred relationship Some 1
Megacystis, microcolon, hypoperistalsis syndrome Occurrence True Congenital Inferred relationship Some 2
Megacystis, microcolon, hypoperistalsis syndrome Occurrence True Congenital Inferred relationship Some 1
Neuronal intestinal dysplasia Occurrence True Congenital Inferred relationship Some 1
Maldescent of testis, bilateral Occurrence False Congenital Inferred relationship Some 2
Maldescent of testis, bilateral Occurrence False Congenital Inferred relationship Some 1
Ectopic ureterocele Occurrence True Congenital Inferred relationship Some 1
Phocomelia of upper limb Occurrence True Congenital Inferred relationship Some 1
Desbuquois syndrome Occurrence True Congenital Inferred relationship Some 4
Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. Occurrence True Congenital Inferred relationship Some 1
Francois syndrome Occurrence True Congenital Inferred relationship Some 1
Francois syndrome Occurrence True Congenital Inferred relationship Some 3
Salmon patch naevus Occurrence True Congenital Inferred relationship Some 1
Vitellointestinal band Occurrence True Congenital Inferred relationship Some 1
Persistent descending vein Occurrence True Congenital Inferred relationship Some 1
Vestigial gastrointestinal remnant Occurrence True Congenital Inferred relationship Some 1
Hydromyelocele with hydrocephalus Occurrence False Congenital Inferred relationship Some 1
Hydromyelocele with hydrocephalus Occurrence False Congenital Inferred relationship Some 2
Congenital syphilitic rhinitis Occurrence True Congenital Inferred relationship Some 1
Totally absent pericardium Occurrence True Congenital Inferred relationship Some 1
Dilatation of tricuspid annulus Occurrence True Congenital Inferred relationship Some 1
Overriding tricuspid valve Occurrence True Congenital Inferred relationship Some 1
Overriding mitral valve Occurrence True Congenital Inferred relationship Some 1
Undescended testes - bilateral Occurrence True Congenital Inferred relationship Some 1
Undescended testes - bilateral Occurrence True Congenital Inferred relationship Some 2
Congenital calyceal diverticulum Occurrence True Congenital Inferred relationship Some 1
Chiari's network Occurrence True Congenital Inferred relationship Some 1
Right ventricular outflow tract absent Occurrence True Congenital Inferred relationship Some 1
Congenital duodenal obstruction due to malrotation of intestine Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth-nail-sweating defect Occurrence True Congenital Inferred relationship Some 4
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Occurrence True Congenital Inferred relationship Some 4
Ectodermal dysplasia with tooth-nail defects Occurrence True Congenital Inferred relationship Some 4
Dentate dysplasia Occurrence True Congenital Inferred relationship Some 1
A rare heterotaxia characterised by complex congenital heart malformations and abnormal lateralisation of other thoracic and abdominal organs due to embryonic disruption of the left-right axis development. Cardiac defects include dextrocardia or mesocardia, common atrioventricular valve associated with complete atrioventricular septal defect or common atrium, transposition or malposition of the great arteries, and total anomalous pulmonary venous drainage, among others. Cardiac arrhythmias are frequently observed. Typical abnormalities of other organs are bilateral trilobed lungs, midline liver, and asplenia. Patients present in the newborn period with severe cardiac failure and cyanosis. Prognosis is poor. Occurrence True Congenital Inferred relationship Some 1
Isomerism of left atrial appendage (disorder) Occurrence True Congenital Inferred relationship Some 1
Two chambered right ventricle Occurrence True Congenital Inferred relationship Some 1
Congenital coronary artery calcification Occurrence True Congenital Inferred relationship Some 1
Trilobular liver Occurrence True Congenital Inferred relationship Some 1
Short preputial frenulum Occurrence True Congenital Inferred relationship Some 1
Overgrowth of upper limb Occurrence True Congenital Inferred relationship Some 1
Vascular birthmark Occurrence True Congenital Inferred relationship Some 1
Persistent Gartner's duct Occurrence True Congenital Inferred relationship Some 1
Ectopic gray matter Occurrence True Congenital Inferred relationship Some 1
Intralobar bronchopulmonary sequestration Occurrence True Congenital Inferred relationship Some 1
Bilobed right lung Occurrence True Congenital Inferred relationship Some 1
Congenital subluxation of hip Occurrence True Congenital Inferred relationship Some 1
Congenital hydroureter Occurrence True Congenital Inferred relationship Some 1
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Occurrence False Congenital Inferred relationship Some 2
Anomalous pulmonary venous drainage to hepatic veins Occurrence True Congenital Inferred relationship Some 1

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