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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
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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
Left atrioventricular valve dysplasia Occurrence True Congenital Inferred relationship Some 3
Left atrioventricular valve hypoplasia Occurrence True Congenital Inferred relationship Some 2
Left atrioventricular valve hypoplasia Occurrence True Congenital Inferred relationship Some 3
Overriding left atrioventricular valve Occurrence True Congenital Inferred relationship Some 2
Overriding left atrioventricular valve Occurrence True Congenital Inferred relationship Some 3
Left atrioventricular valve leaflet abnormality (disorder) Occurrence True Congenital Inferred relationship Some 2
Left atrioventricular valve leaflet abnormality (disorder) Occurrence True Congenital Inferred relationship Some 3
Absent left atrioventricular valve leaflets Occurrence True Congenital Inferred relationship Some 2
Absent left atrioventricular valve leaflets Occurrence True Congenital Inferred relationship Some 3
Left atrioventricular valve prolapse Occurrence True Congenital Inferred relationship Some 2
Left atrioventricular valve prolapse Occurrence True Congenital Inferred relationship Some 3
Left atrioventricular valve leaflet dysplasia Occurrence True Congenital Inferred relationship Some 2
Left atrioventricular valve leaflet dysplasia Occurrence True Congenital Inferred relationship Some 3
Abnormality of left atrioventricular valve chordae tendinae Occurrence True Congenital Inferred relationship Some 2
Abnormality of left atrioventricular valve chordae tendinae Occurrence True Congenital Inferred relationship Some 3
Congenital abnormality of left atrioventricular valve papillary muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital fusion of left atrioventricular valve papillary muscles Occurrence False Congenital Inferred relationship Some 3
Congenital hypoplastic left atrioventricular valve papillary muscle (disorder) Occurrence False Congenital Inferred relationship Some 3
Left atrioventricular valve stenosis in double inlet ventricle (disorder) Occurrence True Congenital Inferred relationship Some 3
Left atrioventricular valve stenosis in double inlet ventricle (disorder) Occurrence True Congenital Inferred relationship Some 4
Dilatation of left atrioventricular (not morphologically mitral) valve in double inlet ventricle Occurrence True Congenital Inferred relationship Some 1
Dilatation of left atrioventricular (not morphologically mitral) valve in double inlet ventricle Occurrence True Congenital Inferred relationship Some 3
Absent common atrioventricular valve papillary muscle Occurrence True Congenital Inferred relationship Some 1
Absent right atrioventricular valve leaflets Occurrence True Congenital Inferred relationship Some 1
Congenital absence of right atrioventricular valve papillary muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital glaucoma of left eye Occurrence True Congenital Inferred relationship Some 1
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. Occurrence True Congenital Inferred relationship Some 3
Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. Occurrence False Congenital Inferred relationship Some 2
Bilateral primary congenital glaucoma Occurrence False Congenital Inferred relationship Some 4
Microphthalmos due to Fryns syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Microphthalmos due to Delleman syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Micromelic dwarfism Fryn type Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital tibiofibular synostosis Occurrence True Congenital Inferred relationship Some 2
Bilateral split foot Occurrence True Congenital Inferred relationship Some 4
Congenital split of bilateral hands (disorder) Occurrence True Congenital Inferred relationship Some 4
Agenesis of metacarpal bone (disorder) Occurrence True Congenital Inferred relationship Some 1
Dominant dystrophic epidermolysis bullosa with absence of skin Occurrence True Congenital Inferred relationship Some 1
Deletion of short arm of chromosome 18 Occurrence True Congenital Inferred relationship Some 2
Deletion of long arm of chromosome 18 Occurrence True Congenital Inferred relationship Some 2
Deletion of long arm of chromosome 13 Occurrence True Congenital Inferred relationship Some 2
6q16 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 3
6q16 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 4
6q16 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 5
6q16 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 6
6q16 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 7
Uterus bicornis bicollis with blind hemi-vagina (disorder) Occurrence True Congenital Inferred relationship Some 2
Uterus bicornis bicollis with blind hemi-vagina (disorder) Occurrence True Congenital Inferred relationship Some 3
Uterus bicornis bicollis with patent cervix and vagina Occurrence True Congenital Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. Occurrence True Congenital Inferred relationship Some 5
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 (disorder) Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of long arm of chromosome 6 (disorder) 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 (disorder) Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of long arm of chromosome 6 (disorder) 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 (disorder) 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 (disorder) 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 (disorder) 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 (disorder) 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 (disorder) Occurrence True Congenital Inferred relationship Some 1
Pfeiffer syndrome type 1 (disorder) Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of long arm of chromosome 16 (disorder) 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 (disorder) 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 (disorder) 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

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This concept is not in any reference sets

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