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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
Xp22.3 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
Xp22.3 microdeletion syndrome Occurrence False Congenital Inferred relationship Some 3
Eng Strom syndrome Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive amelia Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive amelia Occurrence True Congenital Inferred relationship Some 3
Cleft of soft palate and cleft lip Occurrence False Congenital Inferred relationship Some 6
Congenital absence of skeletal bone Occurrence False Congenital Inferred relationship Some
Congenital anomaly of visual system Occurrence False Congenital Inferred relationship Some
Cyanotic congenital heart disease Occurrence False Congenital Inferred relationship Some
Neonatal disseminated listeriosis Occurrence False Congenital Inferred relationship Some
Pure mitochondrial myopathy Occurrence True Congenital Inferred relationship Some 1
Cleft lip retinopathy syndrome Occurrence False Congenital Inferred relationship Some 3
Cleft lip retinopathy syndrome Occurrence False Congenital Inferred relationship Some 4
Cleft lip retinopathy syndrome Occurrence False Congenital Inferred relationship Some 5
Coxoauricular syndrome Occurrence False Congenital Inferred relationship Some 3
Coxoauricular syndrome Occurrence False Congenital Inferred relationship Some 4
Bone dysplasia lethal Holmgren type Occurrence False Congenital Inferred relationship Some 2
Craniosynostosis fibular aplasia syndrome Occurrence True Congenital Inferred relationship Some 2
Craniosynostosis fibular aplasia syndrome Occurrence False Congenital Inferred relationship Some 3
Cortical blindness, intellectual disability, polydactyly syndrome Occurrence True Congenital Inferred relationship Some 4
Cortical blindness, intellectual disability, polydactyly syndrome Occurrence False Congenital Inferred relationship Some 5
Cortical blindness, intellectual disability, polydactyly syndrome Occurrence False Congenital Inferred relationship Some 6
Cortical blindness, intellectual disability, polydactyly syndrome Occurrence False Congenital Inferred relationship Some 7
TMEM165-CDG - transmembrane protein 165 congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
Cleft palate and bilateral cleft lip Occurrence True Congenital Inferred relationship Some 1
Cleft of hard palate Occurrence False Congenital Inferred relationship Some 4
Isologous chimera Occurrence False Congenital Inferred relationship Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome Occurrence True Congenital Inferred relationship Some 3
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome Occurrence True Congenital Inferred relationship Some 4
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome Occurrence True Congenital Inferred relationship Some 5
Distal monosomy 17q Occurrence True Congenital Inferred relationship Some 2
Distal monosomy 17q Occurrence False Congenital Inferred relationship Some 3
Cyprus facial neuromusculoskeletal syndrome Occurrence True Congenital Inferred relationship Some 3
Cyprus facial neuromusculoskeletal syndrome Occurrence False Congenital Inferred relationship Some 4
Cyprus facial neuromusculoskeletal syndrome Occurrence False Congenital Inferred relationship Some 5
Marfanoid syndrome De Silva type Occurrence False Congenital Inferred relationship Some 3
Melhem Fahl syndrome Occurrence True Congenital Inferred relationship Some 1
Cleft of hard palate and cleft lip Occurrence True Congenital Inferred relationship Some 1
Longitudinal deficiency of foot Occurrence False Congenital Inferred relationship Some
Congenital portal-systemic shunt Occurrence False Congenital Inferred relationship Some
Congenital extrahepatic portal-systemic shunt Occurrence False Congenital Inferred relationship Some
Congenital absence of portal vein Occurrence False Congenital Inferred relationship Some
Congenital partial portal-systemic shunt Occurrence False Congenital Inferred relationship Some
Congenital splenorenal shunt Occurrence False Congenital Inferred relationship Some
Congenital intrahepatic portal-systemic shunt Occurrence False Congenital Inferred relationship Some
Duane's syndrome, type 1 Occurrence False Congenital Inferred relationship Some
Duane's syndrome, type 2 Occurrence False Congenital Inferred relationship Some
Duane's syndrome, type 3 Occurrence False Congenital Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Occurrence False Congenital Inferred relationship Some 6
Hydrocephaly, tall stature, joint laxity syndrome Occurrence False Congenital Inferred relationship Some 7
Hydrocephaly, tall stature, joint laxity syndrome Occurrence False Congenital Inferred relationship Some 8
Czeizel Losonci syndrome Occurrence False Congenital Inferred relationship Some 6
Czeizel Losonci syndrome Occurrence False Congenital Inferred relationship Some 7
Czeizel Losonci syndrome Occurrence False Congenital Inferred relationship Some 8
Czeizel Losonci syndrome Occurrence False Congenital Inferred relationship Some 9
Czeizel Losonci syndrome Occurrence False Congenital Inferred relationship Some 10
Czeizel Losonci syndrome Occurrence False Congenital Inferred relationship Some 11
Aplasia of trochlea of humerus Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 18 Occurrence False Congenital Inferred relationship Some
Autosomal recessive spastic paraplegia type 25 Occurrence False Congenital Inferred relationship Some
Congenital anomaly of central nervous system Occurrence False Congenital Inferred relationship Some
Ureterocele Occurrence False Congenital Inferred relationship Some
Inherited metabolic disorder of nervous system Occurrence True Congenital Inferred relationship Some 1
Congenital J shaped sella turcica Occurrence True Congenital Inferred relationship Some 1
Occipitalisation of atlas Occurrence True Congenital Inferred relationship Some 1
Congenital wide symphysis pubis Occurrence False Congenital Inferred relationship Some 2
Congenital wide symphysis pubis Occurrence False Congenital Inferred relationship Some 3
Congenital club finger Occurrence False Congenital Inferred relationship Some 2
Congenital club finger Occurrence False Congenital Inferred relationship Some 3
Splenomegaly co-occurrent and due to storage disease Occurrence False Congenital Inferred relationship Some 1
Transient abnormal myelopoiesis co-occurrent with Down syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital dacryocoele Occurrence True Congenital Inferred relationship Some 1
Common atrioventricular junction Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 2 Occurrence True Congenital Inferred relationship Some 1
Deletion of part of long arm of chromosome 2 Occurrence True Congenital Inferred relationship Some 2
Deletion of part of long arm of chromosome 2 Occurrence False Congenital Inferred relationship Some 3
Deletion of part of short arm of chromosome 2 Occurrence True Congenital Inferred relationship Some 2
Deletion of part of short arm of chromosome 2 Occurrence False Congenital Inferred relationship Some 3
Deletion of part of chromosome 3 Occurrence True Congenital Inferred relationship Some 1
Deletion of part of long arm of chromosome 3 Occurrence True Congenital Inferred relationship Some 2
Deletion of part of long arm of chromosome 3 Occurrence True Congenital Inferred relationship Some 3
Deletion of part of chromosome 4 Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 5 Occurrence True Congenital Inferred relationship Some 1
Deletion of part of long arm of chromosome 5 Occurrence True Congenital Inferred relationship Some 2
Deletion of part of long arm of chromosome 5 Occurrence True Congenital Inferred relationship Some 3
Deletion of part of chromosome 6 Occurrence True Congenital Inferred relationship Some 1
Deletion of part of long arm of chromosome 6 Occurrence True Congenital Inferred relationship Some 2
Deletion of part of long arm of chromosome 6 Occurrence True Congenital Inferred relationship Some 3
Deletion of part of short arm of chromosome 6 Occurrence False Congenital Inferred relationship Some 2
Deletion of part of short arm of chromosome 6 Occurrence True Congenital Inferred relationship Some 3
Deletion of part of chromosome 7 Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 8 Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 9 Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 10 Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 11 Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 12 Occurrence True Congenital Inferred relationship Some 1
Deletion of part of long arm of chromosome 12 Occurrence True Congenital Inferred relationship Some 2
Deletion of part of long arm of chromosome 12 Occurrence False Congenital Inferred relationship Some 3
Deletion of part of chromosome 13 Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 14 Occurrence True Congenital Inferred relationship Some 1
Deletion of part of chromosome 15 Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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