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
SOX2 anophthalmia syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Mitral valve dysplasia	Occurrence	False	Congenital	Inferred relationship	Some
Mitral leaflet dysplasia	Occurrence	False	Congenital	Inferred relationship	Some
Thyroglossal duct sinus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Male subcoronal hypospadias	Occurrence	False	Congenital	Inferred relationship	Some
Prominent renal pelvis	Occurrence	False	Congenital	Inferred relationship	Some
Myostatin related hypertrophy of muscle	Occurrence	False	Congenital	Inferred relationship	Some
Buccal maxillary posterior crossbite (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital prelingual deafness	Occurrence	False	Congenital	Inferred relationship	Some
15q13.3 microdeletion	Occurrence	False	Congenital	Inferred relationship	Some
Timothy syndrome type 1 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
WNT4 Mullerian aplasia and ovarian dysfunction	Occurrence	False	Congenital	Inferred relationship	Some
Ohdo syndrome, Maat-Kievit-Brunner type	Occurrence	False	Congenital	Inferred relationship	Some
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant	Occurrence	False	Congenital	Inferred relationship	Some
Multiple venous malformation of skin and mucous membrane (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
1q21.1 microdeletion	Occurrence	False	Congenital	Inferred relationship	Some
Chromosome 1p36 deletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Chromosome 16p11.2 deletion syndrome	Occurrence	False	Congenital	Inferred relationship	Some
15q24 microdeletion	Occurrence	False	Congenital	Inferred relationship	Some
22q13.3 deletion syndrome	Occurrence	False	Congenital	Inferred relationship	Some
22q11.2 duplication syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
heterozygote otospondylomega-epifysaire dysplasie	Occurrence	False	Congenital	Inferred relationship	Some
Neutral lipid storage disease with myopathy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Myhre syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Myoclonic epilepsy myopathy sensory ataxia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Oculoskeletal dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Agenesis of enamel	Occurrence	False	Congenital	Inferred relationship	Some
Hemifacial myohyperplasia	Occurrence	False	Congenital	Inferred relationship	Some
Andersen Tawil syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Median cleft lip and cleft of alveolar process of maxilla	Occurrence	False	Congenital	Inferred relationship	Some
Generalized spacing of maxillary teeth	Occurrence	False	Congenital	Inferred relationship	Some
Generalized spacing of mandibular teeth	Occurrence	False	Congenital	Inferred relationship	Some
Congenital double lip	Occurrence	False	Congenital	Inferred relationship	Some
Subependymal nodular heterotopia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Labial ectopic tooth	Occurrence	False	Congenital	Inferred relationship	Some
Duane-radial ray syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
ernstige achondroplasie met ontwikkelingsachterstand en acanthosis nigricans (aandoening)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital penile adhesion	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of vertebral region of back	Occurrence	False	Congenital	Inferred relationship	Some
Oculofaciocardiodental syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Mosaic variegated aneuploidy syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital leptin deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital velopharyngeal dysfunction	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital posterior subcapsular polar cataract	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anterior subcapsular polar cataract	Occurrence	False	Congenital	Inferred relationship	Some
Alpha-methylacyl-CoA racemase deficiency disorder	Occurrence	True	Congenital	Inferred relationship	Some	1
Combined malonic and methylmalonic aciduria	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital facial asymmetry	Occurrence	True	Congenital	Inferred relationship	Some	1
Arginine:glycine amidinotransferase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
FOXG1 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Posterior perimaxillary faciosynostosis	Occurrence	False	Congenital	Inferred relationship	Some	3
Maxillo-zygomatic dysostosis	Occurrence	False	Congenital	Inferred relationship	Some	2
Anorectal anomaly	Occurrence	False	Congenital	Inferred relationship	Some	3
Aicardi's syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Aicardi's syndrome	Occurrence	False	Congenital	Inferred relationship	Some	5
Congenital occlusion of iliac vein	Occurrence	True	Congenital	Inferred relationship	Some	1
Persistent lanugo	Occurrence	False	Congenital	Inferred relationship	Some	3
Common arterial trunk with pulmonary arteries arising from trunk and unobstructed aortic arch (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Trigonocephaly	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital cerebellar cortical atrophy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Aortic left ventricular tunnel with right coronary artery from tunnel (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital abnormal fusion of adrenal glands	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital anomaly of aortic arch	Occurrence	False	Congenital	Inferred relationship	Some	2
Anomalous origin of ductus arteriosus from aortic diverticulum (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital duodenal obstruction due to annular pancreas	Occurrence	False	Congenital	Inferred relationship	Some	3
Truncus arteriosus, Edwards' type IV	Occurrence	False	Congenital	Inferred relationship	Some	4
Lack of ossification of interparietal bone	Occurrence	True	Congenital	Inferred relationship	Some	2
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital anomaly of cerebral artery	Occurrence	False	Congenital	Inferred relationship	Some	2
Aberrant course of coronary artery between aorta and pulmonary trunk	Occurrence	False	Congenital	Inferred relationship	Some	2
Robinson nail dystrophy-deafness syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital vascular malformation due to inherited syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Fibrous skin tumor of tuberous sclerosis	Occurrence	True	Congenital	Inferred relationship	Some	3
Multiple lentigines syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital abnormal fusion of parietal bone	Occurrence	False	Congenital	Inferred relationship	Some	2
Specific mixed vascular syndrome	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital hypoplasia of basioccipital bone	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital abnormal fusion of supraoccipital bone	Occurrence	False	Congenital	Inferred relationship	Some	3
Vascular ring with mirror image branching of right aortic arch and left ligamentum arteriosum (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of frontal bone	Occurrence	False	Congenital	Inferred relationship	Some	2
Developmental malformation of branchial arch (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Capillary-venous-lymphatic malformation	Occurrence	False	Congenital	Inferred relationship	Some	4
Congenital obstruction of large intestine	Occurrence	False	Congenital	Inferred relationship	Some	2
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital fenestration of interparietal bone	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital failure of fusion between maxillary and mandibular processes (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Severe ichthyoses	Occurrence	False	Congenital	Inferred relationship	Some	2
Coronary artery runs between aorta and pulmonary trunk	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital pulmonary venous atrium	Occurrence	False	Congenital	Inferred relationship	Some	2
Fronto-parietal craniofaciosynostosis	Occurrence	False	Congenital	Inferred relationship	Some	3
Anomalous intramural course of proximal portion of coronary artery across commissure of aortic valve	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital abnormal fusion of maxilla	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital anomaly of zygomatic bone	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital anomaly of presphenoid bone	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital volvulus	Occurrence	True	Congenital	Inferred relationship	Some	2
Café-au-lait macules with temporal dysrhythmia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Incomplete ossification of nasal bone	Occurrence	False	Congenital	Inferred relationship	Some	2
Port-wine stain in proteus syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Right dominant coronary system	Occurrence	False	Congenital	Inferred relationship	Some	2
Left ventricular outflow tract obstruction due to fibromuscular tunnel (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Incomplete ossification of zygomatic bone	Occurrence	False	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)