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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
Alpha trait thalassaemia Occurrence True Congenital Inferred relationship Some 3
Beta thalassaemia intermedia Occurrence True Congenital Inferred relationship Some 3
Hereditary persistence of fetal haemoglobin Occurrence True Congenital Inferred relationship Some 1
Homozygous alpha thalassaemia Occurrence True Congenital Inferred relationship Some 3
Alpha thalassaemia-2 trait Occurrence True Congenital Inferred relationship Some 3
Haemoglobin Constant Spring trait Occurrence True Congenital Inferred relationship Some 3
Haemoglobin Lepore trait Occurrence True Congenital Inferred relationship Some 3
Delta-beta-Lepore thalassaemia Occurrence True Congenital Inferred relationship Some 3
Alpha-beta thalassaemia Occurrence True Congenital Inferred relationship Some 3
Gamma thalassaemia Occurrence True Congenital Inferred relationship Some 3
Sickle cell anaemia with high haemoglobin F Occurrence True Congenital Inferred relationship Some 4
Haemoglobin E/beta thalassaemia disease Occurrence True Congenital Inferred relationship Some 1
Congenital methaemoglobinaemia with abnormal methaemoglobins Occurrence True Congenital Inferred relationship Some 1
Beta thalassaemia trait Occurrence True Congenital Inferred relationship Some 3
Alpha thalassaemia-intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 3
Melnick-Needles syndrome Occurrence False Congenital Inferred relationship Some
Acquired haemoglobin H disease Occurrence True Congenital Inferred relationship Some 3
Anomalous muscle bands of left ventricle Occurrence False Congenital Inferred relationship Some
Haemoglobin SS disease without crisis Occurrence True Congenital Inferred relationship Some 3
Sickle cell-haemoglobin D disease without crisis Occurrence True Congenital Inferred relationship Some 1
Haemoglobin S sickling disorder without crisis Occurrence True Congenital Inferred relationship Some 1
Hereditary haemoglobin S Occurrence True Congenital Inferred relationship Some 1
Sickle cell-haemoglobin E disease with crisis Occurrence True Congenital Inferred relationship Some 1
Sickle cell-haemoglobin E disease without crisis Occurrence True Congenital Inferred relationship Some 1
Sickle cell-thalassaemia disease with crisis Occurrence True Congenital Inferred relationship Some 4
Sickle cell-thalassaemia disease without crisis Occurrence True Congenital Inferred relationship Some 4
Sickle cell anaemia crisis Occurrence True Congenital Inferred relationship Some 1
Sickling disorder due to haemoglobin S Occurrence True Congenital Inferred relationship Some 1
Sickle cell anaemia with crisis Occurrence True Congenital Inferred relationship Some 3
Sickle cell-haemoglobin C disease with crisis Occurrence True Congenital Inferred relationship Some 1
Sickle cell-haemoglobin C disease without crisis Occurrence True Congenital Inferred relationship Some 1
Sickle cell-haemoglobin D disease with crisis Occurrence True Congenital Inferred relationship Some 1
Hereditary haemoglobinopathy Occurrence True Congenital Inferred relationship Some 1
Haemoglobin SS disease with vasoocclusive crisis Occurrence True Congenital Inferred relationship Some 3
Acute sickle cell splenic sequestration crisis Occurrence True Congenital Inferred relationship Some 3
Haemoglobin O-Arab trait Occurrence True Congenital Inferred relationship Some 1
Hemoglobin H constant spring thalassemia Occurrence True Congenital Inferred relationship Some 3
Alpha thalassaemia X-linked intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 3
Dominant beta-thalassaemia Occurrence True Congenital Inferred relationship Some 3
Beta thalassaemia X-linked thrombocytopenia syndrome Occurrence True Congenital Inferred relationship Some 3
Pseudoprogeria syndrome Occurrence True Congenital Inferred relationship Some 5
Pseudoprogeria syndrome Occurrence True Congenital Inferred relationship Some 6
Pseudoprogeria syndrome Occurrence False Congenital Inferred relationship Some 7
Pseudoprogeria syndrome Occurrence False Congenital Inferred relationship Some 8
Pseudoprogeria syndrome Occurrence False Congenital Inferred relationship Some 9
Exostosis, anetoderma, brachydactyly type E syndrome Occurrence True Congenital Inferred relationship Some 2
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence True Congenital Inferred relationship Some 7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence False Congenital Inferred relationship Some 8
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence False Congenital Inferred relationship Some 9
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Occurrence False Congenital Inferred relationship Some 13
Joubert syndrome with Jeune asphyxiating thoracic dystrophy Occurrence False Congenital Inferred relationship Some 4
Joubert syndrome with Jeune asphyxiating thoracic dystrophy Occurrence False Congenital Inferred relationship Some 5
Joubert syndrome with Jeune asphyxiating thoracic dystrophy Occurrence False Congenital Inferred relationship Some 6
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Occurrence False Congenital Inferred relationship Some 5
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Occurrence False Congenital Inferred relationship Some 6
MAN1B1-CDG - mannosidase alpha class 1B member 1 deficiency congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
Congenital disorder of glycosylation type 1s Occurrence True Congenital Inferred relationship Some 1
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Occurrence True Congenital Inferred relationship Some 3
Long thumb brachydactyly syndrome Occurrence True Congenital Inferred relationship Some 4
Long thumb brachydactyly syndrome Occurrence False Congenital Inferred relationship Some 5
Long thumb brachydactyly syndrome Occurrence False Congenital Inferred relationship Some 6
Long thumb brachydactyly syndrome Occurrence False Congenital Inferred relationship Some 7
Sickle cell trait in mother complicating pregnancy Occurrence True Congenital Inferred relationship Some 1
Thalassaemia in mother complicating pregnancy Occurrence True Congenital Inferred relationship Some 3
Sickle cell anaemia in mother complicating childbirth Occurrence True Congenital Inferred relationship Some 3
Sickle cell trait in mother complicating childbirth Occurrence True Congenital Inferred relationship Some 1
Thalassaemia in mother complicating childbirth Occurrence True Congenital Inferred relationship Some 3
Congenital anomaly of lacrimal system Occurrence False Congenital Inferred relationship Some
Congenital lobulation of kidney Occurrence False Congenital Inferred relationship Some
Ring chromosome 22 syndrome Occurrence False Congenital Inferred relationship Some
Congenital duplication of stomach Occurrence False Congenital Inferred relationship Some
Congenital cleft hand Occurrence False Congenital Inferred relationship Some 4
Congenital absence of lobe of liver Occurrence False Congenital Inferred relationship Some
Hypercholesterolaemia Occurrence False Congenital Inferred relationship Some
Brachycephaly Occurrence False Congenital Inferred relationship Some
Congenital stricture of urethra Occurrence False Congenital Inferred relationship Some
Anomaly of chromosome pair 3 Occurrence False Congenital Inferred relationship Some
Congenital anomaly of aortic valve Occurrence False Congenital Inferred relationship Some
Uterus unicornis Occurrence False Congenital Inferred relationship Some
Congenital anomaly of urethra Occurrence False Congenital Inferred relationship Some
Buphthalmos Occurrence False Congenital Inferred relationship Some
Preductal coarctation of aorta Occurrence False Congenital Inferred relationship Some
Lenz-Majewski hyperostosis syndrome Occurrence False Congenital Inferred relationship Some
Derencephalus Occurrence False Congenital Inferred relationship Some
12p partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Propionyl-CoA carboxylase deficiency Occurrence False Congenital Inferred relationship Some
Multiple carboxylase deficiency - neonatal onset Occurrence False Congenital Inferred relationship Some
Holocarboxylase synthase deficiency Occurrence False Congenital Inferred relationship Some
Homocystinuria vitamin B12-responsive type III Occurrence False Congenital Inferred relationship Some
Functional defects of methionine synthase Occurrence False Congenital Inferred relationship Some
Homogentisate 1,2-dioxygenase deficiency Occurrence False Congenital Inferred relationship Some
Double renal pelvis Occurrence False Congenital Inferred relationship Some
Hypoplastic chondrodystrophy Occurrence False Congenital Inferred relationship Some
Pigmented xerodermoid Occurrence False Congenital Inferred relationship Some
Lipofuscinosis Occurrence True Congenital Inferred relationship Some 1
Hepatic tyrosine aminotransferase deficiency Occurrence False Congenital Inferred relationship Some
Glutaryl-CoA dehydrogenase deficiency Occurrence False Congenital Inferred relationship Some
Doubling of uterus with doubling of cervix and vagina Occurrence False Congenital Inferred relationship Some
Dysplastic ovary Occurrence False Congenital Inferred relationship Some
Congenital ovarian dysplasia Occurrence False Congenital Inferred relationship Some

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Reference Sets

Qualifier value foundation reference set

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