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

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