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255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Bilateral congenital vertical talus Occurrence True Congenital Inferred relationship Some 5
Pili torti Occurrence True Congenital Inferred relationship Some 2
Pili torti-deafness syndrome Occurrence True Congenital Inferred relationship Some 4
Bilateral complete phocomelia of lower limb Occurrence True Congenital Inferred relationship Some 3
Bilateral complete phocomelia of lower limb Occurrence True Congenital Inferred relationship Some 4
Bilateral complete phocomelia of lower limb Occurrence True Congenital Inferred relationship Some 5
Bilateral complete phocomelia of lower limb Occurrence True Congenital Inferred relationship Some 6
Bilateral complete phocomelia of lower limb Occurrence True Congenital Inferred relationship Some 7
Bilateral complete phocomelia of lower limb Occurrence True Congenital Inferred relationship Some 8
Complete phocomelia of lower limb Occurrence True Congenital Inferred relationship Some 3
Complete phocomelia of lower limb Occurrence True Congenital Inferred relationship Some 4
Rhizomelic chondrodysplasia punctata type 1 Occurrence True Congenital Inferred relationship Some 1
Rhizomelic chondrodysplasia punctata type 1 Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of long arm of chromosome 5 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of long arm of chromosome 6 Occurrence True Congenital Inferred relationship Some 1
Renal tubular dysgenesis due to twin to twin transfusion Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of long arm of chromosome 5 Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of long arm of chromosome 6 Occurrence True Congenital Inferred relationship Some 2
Paternal uniparental disomy of chromosome 4 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of long arm of chromosome 3 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of long arm of chromosome 4 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of long arm of chromosome 18 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of long arm of chromosome 2 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of long arm of chromosome 3 Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of long arm of chromosome 4 Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of long arm of chromosome 18 Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of long arm of chromosome 2 Occurrence True Congenital Inferred relationship Some 2
Paternal uniparental disomy of chromosome 15 Occurrence True Congenital Inferred relationship Some 1
Paternal uniparental disomy of chromosome 14 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of long arm of chromosome 17 Occurrence True Congenital Inferred relationship Some 1
Paternal uniparental disomy of chromosome 11 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of long arm of chromosome 17 Occurrence True Congenital Inferred relationship Some 2
Penile megalourethra Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of long arm of chromosome 12 Occurrence True Congenital Inferred relationship Some 1
Pfeiffer syndrome type 1 Occurrence True Congenital Inferred relationship Some 1
Pfeiffer syndrome type 1 Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of long arm of chromosome 16 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of long arm of chromosome 10 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of long arm of chromosome 12 Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of long arm of chromosome 16 Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of long arm of chromosome 10 Occurrence True Congenital Inferred relationship Some 2
Mosaic 1q duplication Occurrence True Congenital Inferred relationship Some 2
Pelizaeus-Merzbacher disease in female carrier Occurrence True Congenital Inferred relationship Some 1
Pelizaeus-Merzbacher disease in female carrier Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of short arm of chromosome 9 Occurrence True Congenital Inferred relationship Some 1
Pulverulent cataract Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of short arm of chromosome 7 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of long arm of chromosome 11 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of short arm of chromosome 9 Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of short arm of chromosome 7 Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of long arm of chromosome 11 Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of short arm of chromosome 8 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of short arm of chromosome 6 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of short arm of chromosome 2 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of short arm of chromosome 3 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of long arm of chromosome 9 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of short arm of chromosome 8 Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of short arm of chromosome 6 Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of short arm of chromosome 2 Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of short arm of chromosome 3 Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of long arm of chromosome 9 Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of long arm of chromosome 7 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of long arm of chromosome 8 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 8 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 8 Occurrence True Congenital Inferred relationship Some 3
Proximal deletion of long arm of chromosome 9 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 9 Occurrence True Congenital Inferred relationship Some 3
Proximal duplication of short arm of chromosome 1 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of long arm of chromosome 7 Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of long arm of chromosome 8 Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of short arm of chromosome 1 Occurrence True Congenital Inferred relationship Some 2
Proximal deletion of long arm of chromosome 7 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 7 Occurrence False Congenital Inferred relationship Some 2
Proximal deletion of long arm of chromosome 7 Occurrence True Congenital Inferred relationship Some 3
Proximal deletion of long arm of chromosome 5 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 5 Occurrence True Congenital Inferred relationship Some 2
Proximal deletion of long arm of chromosome 6 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 6 Occurrence True Congenital Inferred relationship Some 2
Proximal deletion of long arm of chromosome 4 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 4 Occurrence True Congenital Inferred relationship Some 3
Proximal deletion of long arm of chromosome 3 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 3 Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital macrostomia Occurrence True Congenital Inferred relationship Some 4
Proximal deletion of long arm of chromosome 18 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 18 Occurrence True Congenital Inferred relationship Some 3
Proximal deletion of long arm of chromosome 2 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 2 Occurrence True Congenital Inferred relationship Some 2
Proximal deletion of long arm of chromosome 17 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 17 Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of chromosome 21 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 16 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 16 Occurrence False Congenital Inferred relationship Some 3
Primary congenital hyperplasia of lung Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of chromosome 13 Occurrence True Congenital Inferred relationship Some 1
Bilateral polydactyly of index finger Occurrence True Congenital Inferred relationship Some 1
Bilateral polydactyly of index finger Occurrence True Congenital Inferred relationship Some 2
Renal tubular dysgenesis Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 10 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 10 Occurrence True Congenital Inferred relationship Some 3
Proximal deletion of chromosome 21 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 1 Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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