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255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Case insensitive SNOMED CT core
380599019 Congenita en Synonym Active Case insensitive SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Case insensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Hologastroschisis Occurrence True Congenital Inferred relationship Some 1
Single naris Occurrence True Congenital Inferred relationship Some 1
Hallermann-Streiff syndrome Occurrence True Congenital Inferred relationship Some 1
Distichiasis-lymphoedema syndrome Occurrence True Congenital Inferred relationship Some 3
Hereditary elliptocytosis due to alpha spectrin defect Occurrence True Congenital Inferred relationship Some 4
Congenital syphilitic choroiditis Occurrence True Congenital Inferred relationship Some 1
Arthrogryposis and ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 8
Arthrogryposis and ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 7
Congenital volvulus of stomach Occurrence True Congenital Inferred relationship Some 1
Congenital duodenal obstruction due to annular pancreas Occurrence True Congenital Inferred relationship Some 1
Congenital lymphangiectasia Occurrence True Congenital Inferred relationship Some 1
Congenital cutaneous lymphangiectasia Occurrence True Congenital Inferred relationship Some 1
Congenital lymphangiectasia with chylous reflux Occurrence True Congenital Inferred relationship Some 1
Moynahan syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of atrium Occurrence True Congenital Inferred relationship Some 1
Blepharophimosis, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Blepharophimosis, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 2
Arteriovenous malformation of uterus Occurrence True Congenital Inferred relationship Some 1
Atresia of oesophagus co-occurrent with oesophagobronchial fistula Occurrence True Congenital Inferred relationship Some 1
Atresia of oesophagus co-occurrent with oesophagobronchial fistula Occurrence True Congenital Inferred relationship Some 3
Atresia of oesophagus co-occurrent with oesophagobronchial fistula Occurrence True Congenital Inferred relationship Some 2
Bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 1
Bilateral cleft lip and bilateral cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 2
Gamma delta beta thalassaemia Occurrence True Congenital Inferred relationship Some 3
Agenesis of artery Occurrence True Congenital Inferred relationship Some 1
Neurenteric cyst Occurrence True Congenital Inferred relationship Some 1
Focal facial dermal dysplasia Occurrence True Congenital Inferred relationship Some 2
Focal facial dermal dysplasia Occurrence True Congenital Inferred relationship Some 1
Focal facial dermal dysplasia type I Occurrence True Congenital Inferred relationship Some 1
Focal facial dermal dysplasia type I Occurrence True Congenital Inferred relationship Some 2
Focal facial dermal dysplasia type II Occurrence True Congenital Inferred relationship Some 2
Focal facial dermal dysplasia type II Occurrence True Congenital Inferred relationship Some 1
Focal facial dermal dysplasia type III Occurrence True Congenital Inferred relationship Some 2
Focal facial dermal dysplasia type III Occurrence True Congenital Inferred relationship Some 1
Focal facial dermal dysplasia type IV Occurrence True Congenital Inferred relationship Some 1
Focal facial dermal dysplasia type IV Occurrence True Congenital Inferred relationship Some 2
X-linked acrogigantism due to Xq26 microduplication Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of anterior portion of neck Occurrence True Congenital Inferred relationship Some 1
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Occurrence True Congenital Inferred relationship Some 5
SPOAN and SPOAN-related disorder Occurrence False Congenital Inferred relationship Some 3
SPOAN and SPOAN-related disorder Occurrence False Congenital Inferred relationship Some 1
SPOAN and SPOAN-related disorder Occurrence False Congenital Inferred relationship Some 2
Complete achromatopsia Occurrence True Congenital Inferred relationship Some 1
Blue cone monochromatism Occurrence True Congenital Inferred relationship Some 1
Retinal racemose haemangioma Occurrence True Congenital Inferred relationship Some 1
Short-limb skeletal dysplasia with severe combined immunodeficiency Occurrence True Congenital Inferred relationship Some 4
Short-limb skeletal dysplasia with severe combined immunodeficiency Occurrence False Congenital Inferred relationship Some 3
Short-limb skeletal dysplasia with severe combined immunodeficiency Occurrence True Congenital Inferred relationship Some 2
Short-limb skeletal dysplasia with severe combined immunodeficiency Occurrence True Congenital Inferred relationship Some 1
Corrected transposition of great vessels Occurrence True Congenital Inferred relationship Some 1
Hemianencephaly Occurrence True Congenital Inferred relationship Some 1
Macromelia Occurrence True Congenital Inferred relationship Some 1
Dumbbell-shaped cartilaginous centrum of thoracic vertebra Occurrence True Congenital Inferred relationship Some 1
Congenital tracheomalacia Occurrence True Congenital Inferred relationship Some 1
Ectopic cilia of eyelid Occurrence True Congenital Inferred relationship Some 1
Congenital arteriovenous malformation of duodenum Occurrence False Congenital Inferred relationship Some 1245851923
Periventricular nodular heterotopia Occurrence True Congenital Inferred relationship Some 1
Aplasia of corpus callosum Occurrence True Congenital Inferred relationship Some 1
Spina bifida of sacral region Occurrence True Congenital Inferred relationship Some 1
Sacral spina bifida without hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 1
11p partial monosomy syndrome Occurrence True Congenital Inferred relationship Some 1
WAGR syndrome Occurrence True Congenital Inferred relationship Some 2
Juvenile GM1 gangliosidosis Occurrence True Congenital Inferred relationship Some 3
Adult GM1 gangliosidosis Occurrence True Congenital Inferred relationship Some 3
Congenital cutaneous lymphangiectasia Occurrence False Congenital Inferred relationship Some 2
Aganglionosis of large intestine Occurrence True Congenital Inferred relationship Some 2
Pulmonary tuberous sclerosis Occurrence True Congenital Inferred relationship Some 4
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Occurrence True Congenital Inferred relationship Some 4
Meningomyelocele of lumbosacral spine Occurrence True Congenital Inferred relationship Some 1
Meningomyelocele of lumbosacral spine Occurrence True Congenital Inferred relationship Some 4
Congenital absence of body of uterus Occurrence True Congenital Inferred relationship Some 1
Congenital respiratory biliary fistula Occurrence True Congenital Inferred relationship Some 1
Congenital respiratory biliary fistula Occurrence True Congenital Inferred relationship Some 2
Trichorhinophalangeal syndrome type 1 and 3 Occurrence True Congenital Inferred relationship Some 1
Trichorhinophalangeal syndrome type 1 and 3 Occurrence True Congenital Inferred relationship Some 2
Posterior hypospadias Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 4
Generalised glucocorticoid resistance syndrome Occurrence True Congenital Inferred relationship Some 1
Glycogen storage disease due to muscle phosphorylase kinase deficiency Occurrence True Congenital Inferred relationship Some 1
Congenital arteriovenous malformation of duodenum Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex with hypodontia Occurrence True Congenital Inferred relationship Some 2
Eisenmenger ventricular septal defect Occurrence True Congenital Inferred relationship Some 1
Mosaic trisomy 1 syndrome Occurrence True Congenital Inferred relationship Some 1
Mosaic trisomy 1 syndrome Occurrence True Congenital Inferred relationship Some 2
Farber's lipogranulomatosis Occurrence True Congenital Inferred relationship Some 1
Congenital Fanconi syndrome Occurrence True Congenital Inferred relationship Some 1
Progressive deafness with stapes fixation Occurrence True Congenital Inferred relationship Some 1
Hereditary camptodactyly Occurrence True Congenital Inferred relationship Some 1
Fabry's disease Occurrence False Congenital Inferred relationship Some 1
Melnick-Fraser syndrome Occurrence True Congenital Inferred relationship Some 5
Pulmonic stenosis and congenital nephrosis Occurrence True Congenital Inferred relationship Some 2
Senter syndrome Occurrence False Congenital Inferred relationship Some 4
Keratitis ichthyosis and deafness syndrome Occurrence False Congenital Inferred relationship Some 4
Keratitis ichthyosis and deafness syndrome Occurrence True Congenital Inferred relationship Some 5
Autosomal recessive keratitis-ichthyosis-deafness syndrome Occurrence True Congenital Inferred relationship Some 3
Autosomal recessive keratitis-ichthyosis-deafness syndrome Occurrence True Congenital Inferred relationship Some 4
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome Occurrence True Congenital Inferred relationship Some 1
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome Occurrence True Congenital Inferred relationship Some 2
Craniofacial deafness hand syndrome Occurrence True Congenital Inferred relationship Some 1
Craniofacial deafness hand syndrome Occurrence True Congenital Inferred relationship Some 2
Craniofacial deafness hand syndrome Occurrence True Congenital Inferred relationship Some 3

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Reference Sets

Qualifier value foundation reference set

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