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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
135131000052119 medfödd sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


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
Gnathodiaphyseal dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Cervical spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 3
Cervical spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 1
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Parastremmatic dwarfism (disorder) Occurrence True Congenital Inferred relationship Some 1
Complete transposition of great vessels Occurrence True Congenital Inferred relationship Some 2
Complete transposition of great vessels Occurrence True Congenital Inferred relationship Some 1
Popliteal pterygium syndrome Occurrence True Congenital Inferred relationship Some 1
Shprintzen Goldberg craniosynostosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Shprintzen Goldberg craniosynostosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Taurodontia with absent teeth and sparse hair syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Taurodontia with absent teeth and sparse hair syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Taurodontia with absent teeth and sparse hair syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 8 (disorder) Occurrence True Congenital Inferred relationship Some 1
Lelis syndrome Occurrence True Congenital Inferred relationship Some 2
Brachydactylous dwarfism Mseleni type Occurrence False Congenital Inferred relationship Some 1
Interatrial communication through coronary sinus orifice (disorder) Occurrence True Congenital Inferred relationship Some 2
Keratin 14 related epidermolysis bullosa simplex (disorder) Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of fibula Occurrence True Congenital Inferred relationship Some 1
Imperforate jejunum Occurrence True Congenital Inferred relationship Some 1
Congenital atrial septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Lymphedema, atrial septal defect, facial changes syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Lymphedema, atrial septal defect, facial changes syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Joubert syndrome with ocular defect (disorder) Occurrence True Congenital Inferred relationship Some 1
övertaliga rötter Occurrence False Congenital Inferred relationship Some 1
Congenital broncho-esophageal fistula without atresia Occurrence True Congenital Inferred relationship Some 1
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Melnick-Needles syndrome Occurrence True Congenital Inferred relationship Some 1
hemicentriskt centrum i sakralkota Occurrence False Congenital Inferred relationship Some 1
Congenital cataract with ataxia and deafness syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Thoracolumbar spina bifida with hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 3
Nevus comedonicus Occurrence True Congenital Inferred relationship Some 1
Multiple synostosis syndrome Occurrence True Congenital Inferred relationship Some 1
Longitudinal absence of radius AND ulna Occurrence True Congenital Inferred relationship Some 1
Longitudinal absence of radius AND ulna Occurrence True Congenital Inferred relationship Some 2
Port-wine stain associated with spinal dysraphism (disorder) Occurrence True Congenital Inferred relationship Some 1
Port-wine stain associated with spinal dysraphism (disorder) Occurrence False Congenital Inferred relationship Some 2
Flynn-Aird syndrome Occurrence True Congenital Inferred relationship Some 1
Curry-Hall syndrome Occurrence True Congenital Inferred relationship Some 1
Marshall syndrome Occurrence True Congenital Inferred relationship Some 1
Acrocephalopolysyndactyly type IV (disorder) Occurrence True Congenital Inferred relationship Some 2
Acrocephalopolysyndactyly type IV (disorder) Occurrence True Congenital Inferred relationship Some 1
Vascular ring with left aortic arch to right descending aorta and right patent arterial duct (disorder) Occurrence True Congenital Inferred relationship Some 1
Immuno-osseous dysplasia Occurrence True Congenital Inferred relationship Some 1
Schmitt Gillenwater Kelly syndrome Occurrence True Congenital Inferred relationship Some 4
Hypohidrosis with neurolabyrinthitis Occurrence True Congenital Inferred relationship Some 2
Manus valga Occurrence False Congenital Inferred relationship Some 2
Spina bifida aperta of thoracic spine (disorder) Occurrence True Congenital Inferred relationship Some 2
Spina bifida aperta of thoracic spine (disorder) Occurrence True Congenital Inferred relationship Some 1
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypohidrotic X-linked ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 1
Smith-Fineman-Myers syndrom Occurrence False Congenital Inferred relationship Some 1
Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Dappled diaphyseal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Cutis gyrata syndrome of Beare and Stevenson Occurrence True Congenital Inferred relationship Some 1
Juvenile fucosidosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital stricture of osseous meatus Occurrence True Congenital Inferred relationship Some 1
familjära multipla café-au-lait-färgade hudfläckar utan neurofibromatos Occurrence False Congenital Inferred relationship Some 1
Syndromic recessive X-linked ichthyosis (disorder) Occurrence True Congenital Inferred relationship Some 1
ossös syndaktyli av andra till fjärde tåmellanrummen Occurrence False Congenital Inferred relationship Some 1
Mobile kidney Occurrence True Congenital Inferred relationship Some 1
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Vascular loops of inner ear Occurrence True Congenital Inferred relationship Some 1
Camptodactyly taurinuria syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Craniopagus parasiticus Occurrence True Congenital Inferred relationship Some 1
brakyolmi, Hobaek-typ Occurrence False Congenital Inferred relationship Some 1
Omphalocele with obstruction Occurrence True Congenital Inferred relationship Some 3
Dicephalus tripus tribrachius Occurrence True Congenital Inferred relationship Some 1
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Pseudohypoparathyroidism type I A Occurrence True Congenital Inferred relationship Some 1
spondyloepimetafyseal dysplasi med slapphet i led Occurrence False Congenital Inferred relationship Some 1
Greig cephalopolysyndactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Bosley Salih Alorainy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Neurofaciodigitorenal syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Neurofaciodigitorenal syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Pili annulati Occurrence True Congenital Inferred relationship Some 1
Mesomelic dysplasia Kantaputra type (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital microgastria with limb reduction defect syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleidorhizomelic syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Seckel syndrome Occurrence True Congenital Inferred relationship Some 1
Seckel syndrome Occurrence True Congenital Inferred relationship Some 2
Craniopagus occipitalis Occurrence True Congenital Inferred relationship Some 1
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Occurrence True Congenital Inferred relationship Some 2
Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital vascular malformation due to inherited syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypertaurodontism Occurrence False Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction due to diaphragm (disorder) Occurrence False Congenital Inferred relationship Some 1
Vertical retraction syndrome Occurrence True Congenital Inferred relationship Some 1
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Microgyria Occurrence True Congenital Inferred relationship Some 1
Severe generalized recessive dystrophic epidermolysis bullosa (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital micrognathism Occurrence True Congenital Inferred relationship Some 1
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Hand-foot-genital syndrome Occurrence True Congenital Inferred relationship Some 1

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