255399007: congenitaal (kwalificatiewaarde)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Fetal and/or neonatal period\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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
Congenital coxa valga antetorta (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Atypical phytanic acid storage disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
congenitale talipes equinovarus	Occurrence	False	Congenital	Inferred relationship	Some	1
congenitale talipes equinovarus	Occurrence	False	Congenital	Inferred relationship	Some	2
Pulmonary atresia with ventrical septal defect and major aortopulmonary collateral artery	Occurrence	True	Congenital	Inferred relationship	Some	3
Pulmonary atresia with ventrical septal defect and major aortopulmonary collateral artery	Occurrence	True	Congenital	Inferred relationship	Some	1
Pulmonary atresia with ventrical septal defect and major aortopulmonary collateral artery	Occurrence	True	Congenital	Inferred relationship	Some	5
Pulmonary atresia with ventrical septal defect and major aortopulmonary collateral artery	Occurrence	True	Congenital	Inferred relationship	Some	6
Pre-existing Ehlers-Danlos syndrome during pregnancy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Pre-existing Ehlers-Danlos syndrome during pregnancy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Pulmonary atresia with ventrical septal defect and major aortopulmonary collateral artery	Occurrence	True	Congenital	Inferred relationship	Some	2
Pulmonary atresia with ventrical septal defect and major aortopulmonary collateral artery	Occurrence	True	Congenital	Inferred relationship	Some	4
Pre-existing Ehlers-Danlos syndrome during pregnancy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital plantarflexion deformity of foot	Occurrence	False	Congenital	Inferred relationship	Some	1
Mayer-Rokitansky-Küster-Hauser syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Mayer-Rokitansky-Küster-Hauser syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital angulation deformity of foot	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hallux valgus interphalangeus	Occurrence	True	Congenital	Inferred relationship	Some	1
Developmental cyst of oral cavity	Occurrence	True	Congenital	Inferred relationship	Some	1
Complete cleft upper jaw and palate (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Incomplete cheilognathoschisis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital ventricular outflow tract obstruction	Occurrence	True	Congenital	Inferred relationship	Some	1
Median cleft palate and cleft uvula (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Pre-existing osteogenesis imperfecta in pregnancy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Reduction deformity of finger (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral cheilognathopalatoschisis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Pre-existing Von Hippel-Lindau syndrome in pregnancy	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital anomaly of face due to compression (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Reduction deformity of thumb (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital uterine anomaly in pregnancy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Residual cheiloschisis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Median cleft palate (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Pre-existing Von Hippel-Lindau syndrome in pregnancy	Occurrence	True	Congenital	Inferred relationship	Some	1
Reduction deformity of hand (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Complete cheilognathoschisis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Female epispadias (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital malignant neoplasm	Occurrence	True	Congenital	Inferred relationship	Some	1
Camptodactyly of digit of hand (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Male epispadias (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Isolated low anorectal malformation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
aplasie of hypoplasie van nervus cochlearis (aandoening)	Occurrence	False	Congenital	Inferred relationship	Some	1
exstrofie-epispadie-complex	Occurrence	False	Congenital	Inferred relationship	Some	1
Congenital cutis verticis gyrata (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectopic lobe of lung (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
glycogeenstapelingsziekte door bèta-enolasedeficiëntie in spier	Occurrence	False	Congenital	Inferred relationship	Some	1
Late-infantile neuronal ceroid lipofuscinosis, Finnish variant	Occurrence	True	Congenital	Inferred relationship	Some	1
X-gebonden dominante erytropoëtische protoporfyrie	Occurrence	False	Congenital	Inferred relationship	Some	1
Isolated high anorectal malformation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
DYRK1A-gerelateerd syndroom van verstandelijke beperking	Occurrence	False	Congenital	Inferred relationship	Some	1
Congenital isolated growth hormone deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
grote congenitale naevus naevocellularis van huid	Occurrence	False	Congenital	Inferred relationship	Some	1
Congenital stenosis of ascending aorta (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital midline nasal dermoid cyst (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Severe neonatal type of glutaric aciduria type 2	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital stenosis of descending aorta (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital partial lipodystrophy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Classic juvenile neuronal ceroid lipofuscinosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Oligohydramnios sequence in pregnancy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Oligohydramnios sequence in pregnancy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Progressive congenital rubella encephalitis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mild type of glutaric aciduria type 2	Occurrence	True	Congenital	Inferred relationship	Some	2
Female exstrophy epispadias complex (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Male exstrophy epispadias complex	Occurrence	True	Congenital	Inferred relationship	Some	1
Male X-linked lissencephaly with abnormal genitalia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Male X-linked lissencephaly with abnormal genitalia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Female X-linked lissencephaly with abnormal genitalia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Female X-linked lissencephaly with abnormal genitalia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Male alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Male alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Female alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Female alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Female congenital cataract with deafness and hypogonadism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Female congenital cataract with deafness and hypogonadism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Female congenital cataract with deafness and hypogonadism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Male congenital cataract with deafness and hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Male congenital cataract with deafness and hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Male congenital cataract with deafness and hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Female congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Female congenital muscular dystrophy with infantile cataract and hypogonadism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Male hydrocephalus with obesity and hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Male hydrocephalus with obesity and hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Female hydrocephalus with obesity and hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Female hydrocephalus with obesity and hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Female deafness and hypogonadism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Female deafness and hypogonadism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Male deafness and hypogonadism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Male deafness and hypogonadism syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Male congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Male congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Male craniofacial digital and genital anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Male craniofacial digital and genital anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Male craniofacial digital and genital anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Male craniofacial digital and genital anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Female craniofacial digital and genital anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Female craniofacial digital and genital anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Female craniofacial digital and genital anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Female craniofacial digital and genital anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Female microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2

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Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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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
3440841000146116	congenitaal	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3440851000146118	congenitaal (kwalificatiewaarde)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3440861000146115	aangeboren	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)