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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
Congenital anomaly of blood vessel of spine Occurrence True Congenital Inferred relationship Some 1
Congenital dilatation of common bile duct Occurrence True Congenital Inferred relationship Some 1
Cystic dysplasia of kidney Occurrence True Congenital Inferred relationship Some 2
Cystic dysplasia of kidney Occurrence True Congenital Inferred relationship Some 1
Supernumerary eye muscle Occurrence True Congenital Inferred relationship Some 1
Oligosaccharidosis 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
Choroideraemia with deafness and obesity syndrome Occurrence True Congenital Inferred relationship Some 4
Choroideraemia with deafness and obesity syndrome Occurrence True Congenital Inferred relationship Some 6
Chromosome Xq27.3q28 duplication syndrome Occurrence True Congenital Inferred relationship Some 2
Methyl-cytosine phosphate guanine binding protein-2 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 Occurrence True Congenital Inferred relationship Some 2
Cholestanol storage disease Occurrence True Congenital Inferred relationship Some 1
Synthetic defect of bile acids 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
Hypercholesterolaemia due to cholesterol 7alpha-hydroxylase deficiency Occurrence True Congenital Inferred relationship Some 3
Congenital bile acid synthesis defect type 3 Occurrence True Congenital Inferred relationship Some 2
Familial hypercholanemia Occurrence True Congenital Inferred relationship Some 2
Bile acid CoA ligase deficiency and defective amidation Occurrence True Congenital Inferred relationship Some 3
Cardiac glycogenosis Occurrence True Congenital Inferred relationship Some 1
Proteus like syndrome Occurrence True Congenital Inferred relationship Some 2
Hydrocephaly, tall stature, joint laxity syndrome Occurrence True Congenital Inferred relationship Some 5
Xq12-q13.3 duplication syndrome Occurrence True Congenital Inferred relationship Some 2
Tetrasomy 18p Occurrence True Congenital Inferred relationship Some 2
Tetrasomy of short arm of chromosome 9 Occurrence True Congenital Inferred relationship Some 1
Right accessory carpal bone of wrist Occurrence True Congenital Inferred relationship Some 1
Bilateral accessory carpal bone of wrists Occurrence True Congenital Inferred relationship Some 2
Bilateral accessory carpal bone of wrists 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 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
Bilateral metatarsus primus varus of feet Occurrence True Congenital Inferred relationship Some 2
Bilateral metatarsus primus varus of feet 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 Occurrence True Congenital Inferred relationship Some 1
Congenital hydronephrosis due to bladder obstruction Occurrence True Congenital Inferred relationship Some 3
Congenital hydronephrosis due to ureteropelvic junction obstruction Occurrence True Congenital Inferred relationship Some 3
Congenital hydronephrosis due to ureteropelvic junction obstruction 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 Occurrence True Congenital Inferred relationship Some 1
Deficiency of 3-hydroxyacyl-CoA dehydrogenase Occurrence True Congenital Inferred relationship Some 1
Congenital pterygium of nail 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
X-linked pure hereditary spastic paraplegia Occurrence False Congenital Inferred relationship Some 1
Congenital lethal erythroderma Occurrence True Congenital Inferred relationship Some 2
Gaucher disease with ophthalmoplegia and cardiovascular calcification Occurrence True Congenital Inferred relationship Some 1
Generalised congenital lipodystrophy with myopathy Occurrence True Congenital Inferred relationship Some 1
Congenital interstitial cell of Cajal hyperplasia with neuronal intestinal dysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital interstitial cell of Cajal hyperplasia with neuronal intestinal dysplasia Occurrence True Congenital Inferred relationship Some 2
Cavernous lymphangioma Occurrence True Congenital Inferred relationship Some 1
3q29 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
3q13 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Distal monosomy 6p Occurrence True Congenital Inferred relationship Some 1
6p22 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Deletion of part of short arm of chromosome 6 Occurrence True Congenital Inferred relationship Some 1
17q23.1q23.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Distal monosomy 17q Occurrence True Congenital Inferred relationship Some 1
Deletion of part of long arm of chromosome 17 Occurrence True Congenital Inferred relationship Some 1
17q12 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Deletion of part of short arm of chromosome 12 Occurrence True Congenital Inferred relationship Some 1
Deletion of part of short arm of chromosome 12 Occurrence True Congenital Inferred relationship Some 2
Deletion of part of long arm of chromosome 12 Occurrence True Congenital Inferred relationship Some 1
Partial deletion of long arm of chromosome 15 Occurrence True Congenital Inferred relationship Some 1
Partial deletion of long arm of chromosome 15 Occurrence True Congenital Inferred relationship Some 2
Distal monosomy 15q Occurrence True Congenital Inferred relationship Some 2
15q14 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Microdeletion of chromosome 15q13.3 Occurrence True Congenital Inferred relationship Some 2
15q24 microdeletion Occurrence True Congenital Inferred relationship Some 2
Tetrasomy 15q Occurrence True Congenital Inferred relationship Some 2
Angelman syndrome due to maternal monosomy 15q11q13 Occurrence True Congenital Inferred relationship Some 1
Angelman syndrome due to maternal monosomy 15q11q13 Occurrence True Congenital Inferred relationship Some 2
Partial duplication of long arm of chromosome 15 Occurrence True Congenital Inferred relationship Some 1
Partial duplication of long arm of chromosome 15 Occurrence True Congenital Inferred relationship Some 2
15q13.3 microduplication syndrome Occurrence True Congenital Inferred relationship Some 2
15q11q13 microduplication syndrome Occurrence True Congenital Inferred relationship Some 2
Abnormality of right atrioventricular valve papillary muscle Occurrence True Congenital Inferred relationship Some 1
Fused right atrioventricular valve papillary muscles Occurrence True Congenital Inferred relationship Some 1
Hypoplastic right atrioventricular valve papillary muscle Occurrence True Congenital Inferred relationship Some 1
Parachute malformation of left atrioventricular valve Occurrence True Congenital Inferred relationship Some 1
Fused left atrioventricular valve papillary muscles Occurrence True Congenital Inferred relationship Some 1
Hypoplastic left atrioventricular valve papillary muscle Occurrence True Congenital Inferred relationship Some 1
Partial deletion of long arm of chromosome 16 Occurrence True Congenital Inferred relationship Some 1
Partial deletion of long arm of chromosome 16 Occurrence True Congenital Inferred relationship Some 2

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Reference Sets

Qualifier value foundation reference set

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