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

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