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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

0 descendants.

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
Classical-like Ehlers-Danlos syndrome type 2 Occurrence True Congenital Inferred relationship Some 1
Classical-like Ehlers-Danlos syndrome type 2 Occurrence True Congenital Inferred relationship Some 2
Classical-like Ehlers-Danlos syndrome type 2 Occurrence True Congenital Inferred relationship Some 3
Senter syndrome Occurrence True Congenital Inferred relationship Some 5
Ichthyosis hystrix gravior (disorder) Occurrence True Congenital Inferred relationship Some 1
Cystathioninuria Occurrence True Congenital Inferred relationship Some 2
Mirror-image polydactyly Occurrence True Congenital Inferred relationship Some 1
Oculocerebrodental syndrome Occurrence True Congenital Inferred relationship Some 1
Oculocerebrodental syndrome Occurrence True Congenital Inferred relationship Some 2
Oculocerebrodental syndrome Occurrence True Congenital Inferred relationship Some 3
Oculocerebrodental syndrome Occurrence True Congenital Inferred relationship Some 4
Oculocerebrodental syndrome Occurrence True Congenital Inferred relationship Some 5
Oculocerebrodental syndrome Occurrence True Congenital Inferred relationship Some 7
Congenital myopathy with reduced type 2 muscle fibers Occurrence True Congenital Inferred relationship Some 1
X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 2
Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypopigmentation-immunodeficiency disease type 1 (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypopigmentation-immunodeficiency disease type 1 (disorder) Occurrence True Congenital Inferred relationship Some 2
Hypopigmentation-immunodeficiency disease type 1 (disorder) Occurrence True Congenital Inferred relationship Some 3
Hypopigmentation-immunodeficiency disease type 3 (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypopigmentation-immunodeficiency disease type 3 (disorder) Occurrence True Congenital Inferred relationship Some 2
Hypopigmentation-immunodeficiency disease type 3 (disorder) Occurrence True Congenital Inferred relationship Some 3
X-linked intellectual disability, short stature, overweight syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital umbilical hernia (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital umbilical hernia (disorder) Occurrence True Congenital Inferred relationship Some 2
Localised non-Herlitz junctional epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Congenital isolated onychodysplasia Occurrence True Congenital Inferred relationship Some 1
Imperforate common atrioventricular valve Occurrence False Congenital Inferred relationship Some 2
Common atrioventricular valve limited to one ventricle Occurrence True Congenital Inferred relationship Some 2
Accessory tissue on common atrioventricular valve leaflet Occurrence True Congenital Inferred relationship Some 2
Triple orifice of left ventricular component of common atrioventricular valve Occurrence True Congenital Inferred relationship Some 2
Ebstein's anomaly of common atrioventricular valve Occurrence True Congenital Inferred relationship Some 2
Common atrioventricular valve chordae too short Occurrence True Congenital Inferred relationship Some 2
Common atrioventricular valve chordae too long (disorder) Occurrence True Congenital Inferred relationship Some 2
Common atrioventricular valve chordae to outlet septum Occurrence True Congenital Inferred relationship Some 2
Arcade abnormality of common atrioventricular valve chordae Occurrence True Congenital Inferred relationship Some 2
Atresia of common atrioventricular valve Occurrence False Congenital Inferred relationship Some 2
Hypoplasia of common atrioventricular valve Occurrence True Congenital Inferred relationship Some 2
Dysplasia of common atrioventricular valve Occurrence True Congenital Inferred relationship Some 2
Common atrioventricular valve leaflet abnormality Occurrence True Congenital Inferred relationship Some 2
Common atrioventricular valve prolapse Occurrence True Congenital Inferred relationship Some 2
Abnormality of common atrioventricular valve chordae tendinae Occurrence True Congenital Inferred relationship Some 2
Abnormality of common atrioventricular valve papillary muscle Occurrence True Congenital Inferred relationship Some 2
Fused common atrioventricular valve papillary muscle Occurrence False Congenital Inferred relationship Some 2
Hypoplastic common atrioventricular valve papillary muscle Occurrence True Congenital Inferred relationship Some 2
Abnormality of common atrioventricular valve in atrioventricular septal defect Occurrence True Congenital Inferred relationship Some 2
Trifoliate left atrioventricular valve (disorder) Occurrence True Congenital Inferred relationship Some 2
Left atrioventricular valve bifoliate with fused left sided superior and inferior bridging leaflet (disorder) Occurrence True Congenital Inferred relationship Some 2
Gelatinous atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Noncoapting atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Deficiency of atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Thickened atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Flail atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Fenestration of atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Mass associated with atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Abnormality of atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 2
Accessory tissue on common atrioventricular valve leaflet Occurrence True Congenital Inferred relationship Some 1
Triple orifice of left ventricular component of common atrioventricular valve Occurrence True Congenital Inferred relationship Some 1
Ebstein's anomaly of common atrioventricular valve Occurrence True Congenital Inferred relationship Some 3
Common atrioventricular valve leaflet abnormality Occurrence True Congenital Inferred relationship Some 1
Common atrioventricular valve prolapse Occurrence True Congenital Inferred relationship Some 3
Gelatinous atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Noncoapting atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Deficiency of atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Thickened atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Flail atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Fenestration of atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 3
Mass associated with atrioventricular valve leaflet in atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 3
True cleft of common atrioventricular valve leaflet Occurrence True Congenital Inferred relationship Some 2
Congenital complete absence of left upper limb Occurrence True Congenital Inferred relationship Some 1
Congenital complete absence of right upper limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Baraitser Winter cerebrofrontofacial syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Sporadic camptodactyly Occurrence True Congenital Inferred relationship Some 1
Antenatal multi-minicore disease with arthrogryposis multiplex congenita Occurrence True Congenital Inferred relationship Some 1
Antenatal multi-minicore disease with arthrogryposis multiplex congenita Occurrence True Congenital Inferred relationship Some 2
Congenital hypogammaglobulinaemia Occurrence True Congenital Inferred relationship Some 2
Congenital multi-minicore disease with external ophthalmoplegia (disorder) Occurrence True Congenital Inferred relationship Some 1
Menke Hennekam syndrome Occurrence True Congenital Inferred relationship Some 1
Kartagener syndrome Occurrence True Congenital Inferred relationship Some 6
WARS2-related combined oxidative phosphorylation defect Occurrence True Congenital Inferred relationship Some 3
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome Occurrence True Congenital Inferred relationship Some 1
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Occurrence True Congenital Inferred relationship Some 1
Congenital leptin deficiency Occurrence True Congenital Inferred relationship Some 2
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital vertebral, cardiac, renal anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Occurrence True Congenital Inferred relationship Some 1
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Occurrence True Congenital Inferred relationship Some 2
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha Occurrence True Congenital Inferred relationship Some 1

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