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255399007: Congenital (qualifier value)

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

Descriptions:

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

0 descendants.

Expanded Value Set

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

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