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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
Endosteal hyperostoses with cerebellar hypoplasia Occurrence True Congenital Inferred relationship Some 6
Myeloid leukemia associated with Down syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Periodontitis co-occurrent with Down syndrome Occurrence False Congenital Inferred relationship Some 2
Paternal 20q13.2q13.3 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of long arm of chromosome 20 (disorder) Occurrence True Congenital Inferred relationship Some 1
20q13.33 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
20p12.3 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of short arm of chromosome 20 (disorder) Occurrence True Congenital Inferred relationship Some 1
20q partial trisomy (disorder) Occurrence True Congenital Inferred relationship Some 2
20p partial trisomy syndrome Occurrence True Congenital Inferred relationship Some 2
20q11.2 microduplication syndrome Occurrence True Congenital Inferred relationship Some 2
Distal trisomy 20q syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal monosomy 1q syndrome Occurrence True Congenital Inferred relationship Some 2
14q partial trisomy (disorder) Occurrence True Congenital Inferred relationship Some 2
14q partial proximal trisomy syndrome Occurrence True Congenital Inferred relationship Some 2
14q partial distal trisomy syndrome Occurrence True Congenital Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) Occurrence True Congenital Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) Occurrence True Congenital Inferred relationship Some 1
14q12 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Homozygous hereditary elliptocytosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Adenosine deaminase 2 deficiency Occurrence True Congenital Inferred relationship Some 1
5p partial trisomy Occurrence True Congenital Inferred relationship Some 2
Partial deletion of short arm of chromosome 5 Occurrence True Congenital Inferred relationship Some 2
Partial deletion of short arm of chromosome 5 Occurrence True Congenital Inferred relationship Some 1
5q14.3 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Acute sequestration of spleen due to sickle cell thalassemia with crisis (disorder) Occurrence True Congenital Inferred relationship Some 3
Acute splenic sequestration due to sickle cell hemoglobin C disease with crisis Occurrence True Congenital Inferred relationship Some 3
Proximal 16p11.2 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
22q11 partial monosomy syndrome Occurrence False Congenital Inferred relationship Some 2
Atypical Norrie disease due to monosomy Xp11.3 (disorder) Occurrence True Congenital Inferred relationship Some 1
Chromosome Xp11.3 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Chromosome Xp22.3 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
16p11.2p12.2 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
16p13.11 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of short arm of chromosome 16 (disorder) Occurrence True Congenital Inferred relationship Some 1
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) Occurrence True Congenital Inferred relationship Some 2
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) Occurrence True Congenital Inferred relationship Some 1
Distal 16p11.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital chondrolysis Occurrence True Congenital Inferred relationship Some 1
Supernumerary bone of foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of blood vessel of spine (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dilatation of common bile duct (disorder) Occurrence True Congenital Inferred relationship Some 1
Cystic dysplasia of kidney (disorder) Occurrence True Congenital Inferred relationship Some 2
Cystic dysplasia of kidney (disorder) Occurrence True Congenital Inferred relationship Some 1
Supernumerary eye muscle Occurrence True Congenital Inferred relationship Some 1
Oligosaccharidosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Combined deficiency of sialidase AND beta galactosidase Occurrence True Congenital Inferred relationship Some 3
Combined deficiency of sialidase AND beta galactosidase Occurrence True Congenital Inferred relationship Some 4
Choroideremia with deafness and obesity syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Choroideremia with deafness and obesity syndrome (disorder) Occurrence True Congenital Inferred relationship Some 6
Chromosome Xq27.3q28 duplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
MECP2 duplication syndrome Occurrence True Congenital Inferred relationship Some 3
Distal Xq28 microduplication syndrome Occurrence True Congenital Inferred relationship Some 2
Microduplication Xp11.22p11.23 syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Cholestanol storage disease Occurrence False Congenital Inferred relationship Some 1
Synthetic defect of bile acids (disorder) Occurrence True Congenital Inferred relationship Some 1
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 2
Delta-4-3-oxosteroid-5-beta-reductase deficiency Occurrence True Congenital Inferred relationship Some 2
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency Occurrence True Congenital Inferred relationship Some 3
Congenital bile acid synthesis defect type 3 (disorder) Occurrence True Congenital Inferred relationship Some 2
Familial hypercholanemia (disorder) Occurrence True Congenital Inferred relationship Some 2
Bile acid coenzyme A ligase deficiency and defective amidation (disorder) Occurrence True Congenital Inferred relationship Some 3
Cardiac glycogenosis Occurrence True Congenital Inferred relationship Some 1
Proteus like syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Xq12-q13.3 duplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Tetrasomy 18p Occurrence True Congenital Inferred relationship Some 2
Tetrasomy of short arm of chromosome 9 (disorder) Occurrence True Congenital Inferred relationship Some 1
Right accessory carpal bone of wrist Occurrence True Congenital Inferred relationship Some 1
Accessory carpal bone of bilateral wrists (disorder) Occurrence True Congenital Inferred relationship Some 2
Accessory carpal bone of bilateral wrists (disorder) Occurrence True Congenital Inferred relationship Some 1
Left accessory carpal bone of wrist Occurrence True Congenital Inferred relationship Some 1
Adrenocorticotropic hormone resistance syndrome Occurrence True Congenital Inferred relationship Some 1
Glucocorticoid deficiency with achalasia Occurrence True Congenital Inferred relationship Some 4
Familial glucocorticoid deficiency (disorder) Occurrence True Congenital Inferred relationship Some 2
Left metatarsus primus varus Occurrence True Congenital Inferred relationship Some 1
Right metatarsus primus varus Occurrence True Congenital Inferred relationship Some 1
Metatarsus primus varus of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Some 2
Metatarsus primus varus of bilateral feet (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hydronephrosis due to ureteral orifice obstruction Occurrence True Congenital Inferred relationship Some 2
Congenital obstruction of ureter (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hydronephrosis due to urinary bladder obstruction Occurrence True Congenital Inferred relationship Some 3
Congenital hydronephrosis due to ureteropelvic junction obstruction (disorder) Occurrence True Congenital Inferred relationship Some 3
Congenital hydronephrosis due to ureteropelvic junction obstruction (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital lumbosacral spondylolisthesis Occurrence True Congenital Inferred relationship Some 1
Mild androgen insensitivity syndrome Occurrence True Congenital Inferred relationship Some 2
Mild androgen insensitivity syndrome Occurrence True Congenital Inferred relationship Some 1
Infertile male syndrome Occurrence True Congenital Inferred relationship Some 2
Infertile male syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital talipes equinovarus Occurrence True Congenital Inferred relationship Some 2
Congenital talipes equinovarus Occurrence True Congenital Inferred relationship Some 1
X-linked intellectual disability hypotonic face syndrome Occurrence True Congenital Inferred relationship Some 1
Fatty acid oxidation defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Deficiency of 3-hydroxyacyl-CoA dehydrogenase (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital pterygium of nail (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital arcus juvenilis Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive Charcot-Marie-Tooth disease type 2 Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive epidermolysis bullosa simplex Occurrence True Congenital Inferred relationship Some 1
X-linked complex hereditary spastic paraplegia Occurrence False Congenital Inferred relationship Some 2
X-linked complex hereditary spastic paraplegia Occurrence False Congenital Inferred relationship Some 1
X-linked pure hereditary spastic paraplegia Occurrence False Congenital Inferred relationship Some 2

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