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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
Medich giant platelet syndrome Occurrence True Congenital Inferred relationship Some 3
Familial platelet syndrome with predisposition to acute myelogenous leukaemia Occurrence True Congenital Inferred relationship Some 3
Congenital heart disease Occurrence False Congenital Inferred relationship Some
Say Field Coldwell syndrome Occurrence True Congenital Inferred relationship Some 2
Say Field Coldwell syndrome Occurrence False Congenital Inferred relationship Some 3
Camptodactyly taurinuria syndrome Occurrence False Congenital Inferred relationship Some 2
Familial anetoderma Occurrence True Congenital Inferred relationship Some 1
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Occurrence False Congenital Inferred relationship Some 3
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Occurrence False Congenital Inferred relationship Some 4
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 3
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 4
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 5
Microcephalus, glomerulonephritis, marfanoid habitus syndrome Occurrence False Congenital Inferred relationship Some 4
Microcephalus, glomerulonephritis, marfanoid habitus syndrome Occurrence False Congenital Inferred relationship Some 5
16p13.3 microduplication syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital spondylolisthesis Occurrence False Congenital Inferred relationship Some
Synechia vulvae Occurrence False Congenital Inferred relationship Some
Leukoencephalopathy, dystonia, motor neuropathy syndrome Occurrence True Congenital Inferred relationship Some 1
Spastic paraplegia, glaucoma, intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 3
Spastic paraplegia, glaucoma, intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 5
Ehlers-Danlos and osteogenesis imperfecta syndrome Occurrence False Congenital Inferred relationship Some 3
Ehlers-Danlos and osteogenesis imperfecta syndrome Occurrence True Congenital Inferred relationship Some 4
Distal myopathy with posterior leg and anterior hand involvement Occurrence False Congenital Inferred relationship Some 2
Distal myopathy with posterior leg and anterior hand involvement Occurrence False Congenital Inferred relationship Some 3
Distal myopathy with early respiratory muscle involvement Occurrence False Congenital Inferred relationship Some 2
Distal myopathy with early respiratory muscle involvement Occurrence False Congenital Inferred relationship Some 3
Carney complex Occurrence True Congenital Inferred relationship Some 3
Carney complex Occurrence False Congenital Inferred relationship Some 4
Carney complex Occurrence False Congenital Inferred relationship Some 5
Femoral hypoplasia - unusual facies syndrome Occurrence False Congenital Inferred relationship Some
Congenital corneal opacity interfering with vision Occurrence False Congenital Inferred relationship Some
Pipecolic acidaemia Occurrence False Congenital Inferred relationship Some
Incomplete anencephaly Occurrence False Congenital Inferred relationship Some
Congenital absence of part of arm Occurrence False Congenital Inferred relationship Some
Ablepharon Occurrence False Congenital Inferred relationship Some
Thalassaemia intermedia Occurrence True Congenital Inferred relationship Some 3
Haemoglobin Bart's hydrops syndrome Occurrence True Congenital Inferred relationship Some 3
A gamma beta^+^ hereditary persistence of fetal hemoglobin AND beta^0^ thalassemia in cis Occurrence True Congenital Inferred relationship Some 3
Haemoglobin D trait Occurrence True Congenital Inferred relationship Some 1
beta^+^ Thalassaemia, normal Hb A>2<, type 2 Occurrence True Congenital Inferred relationship Some 3
Delta beta thalassaemia Occurrence True Congenital Inferred relationship Some 3
Sickle cell trait Occurrence True Congenital Inferred relationship Some 1
Delta thalassaemia Occurrence True Congenital Inferred relationship Some 3
Hereditary persistence of fetal haemoglobin thalassaemia Occurrence True Congenital Inferred relationship Some 3
Unstable haemoglobin disease Occurrence True Congenital Inferred relationship Some 1
Heterozygous thalassaemia Occurrence True Congenital Inferred relationship Some 3
Double heterozygous sickling disorder Occurrence True Congenital Inferred relationship Some 1
Epsilon gamma delta beta thalassaemia Occurrence True Congenital Inferred relationship Some 3
Haemoglobin E disease Occurrence True Congenital Inferred relationship Some 1
Sickle cell-haemoglobin D disease Occurrence True Congenital Inferred relationship Some 1
Homozygous beta thalassaemia Occurrence True Congenital Inferred relationship Some 3
Beta zero thalassaemia deletion type Occurrence True Congenital Inferred relationship Some 3
Hereditary persistence of fetal haemoglobin unlinked to beta-globulin gene cluster Occurrence True Congenital Inferred relationship Some 3
Sickle cell-haemoglobin C disease Occurrence True Congenital Inferred relationship Some 1
Alpha plus thalassaemia Occurrence True Congenital Inferred relationship Some 3
Sickle cell-thalassaemia disease Occurrence True Congenital Inferred relationship Some 4
HPFH A gamma beta^+^ thalassaemia Occurrence True Congenital Inferred relationship Some 3
Thalassaemia Occurrence True Congenital Inferred relationship Some 3
Haemoglobin E trait Occurrence True Congenital Inferred relationship Some 1
Sickle cell-haemoglobin E disease Occurrence True Congenital Inferred relationship Some 1
Thalassaemia with other haemoglobinopathy Occurrence True Congenital Inferred relationship Some 3
Beta plus thalassaemia normal haemoglobin A>2< type 1 silent Occurrence True Congenital Inferred relationship Some 3
Haemoglobin H disease Occurrence True Congenital Inferred relationship Some 3
Haemoglobin C disease Occurrence True Congenital Inferred relationship Some 1
Hereditary persistence of fetal haemoglobin delta beta plus thalassaemia Occurrence True Congenital Inferred relationship Some 3
HPFH nondeletion type Occurrence True Congenital Inferred relationship Some 3
Hereditary persistence of fetal haemoglobin G gamma beta plus thalassaemia Occurrence True Congenital Inferred relationship Some 3
Thalassaemia-haemoglobin C disease Occurrence True Congenital Inferred relationship Some 3
Delta zero thalassaemia Occurrence True Congenital Inferred relationship Some 3
Beta thalassaemia Occurrence True Congenital Inferred relationship Some 3
Alpha zero thalassaemia Occurrence True Congenital Inferred relationship Some 3
Haemoglobin D disease Occurrence True Congenital Inferred relationship Some 1
Alpha thalassaemia Occurrence True Congenital Inferred relationship Some 3
Hb Lepore thalassaemia Occurrence True Congenital Inferred relationship Some 3
Epsilon gamma delta beta^0^ thalassaemia Occurrence True Congenital Inferred relationship Some 3
Jeune thoracic dystrophy Occurrence True Congenital Inferred relationship Some 1
Thalassaemia major Occurrence True Congenital Inferred relationship Some 3
Haemoglobin C trait Occurrence True Congenital Inferred relationship Some 1
Delta beta zero thalassaemia Occurrence True Congenital Inferred relationship Some 3
Beta plus thalassaemia Occurrence True Congenital Inferred relationship Some 3
Thalassaemia syndrome Occurrence True Congenital Inferred relationship Some 3
Alpha plus thalassaemia non deletion type Occurrence True Congenital Inferred relationship Some 3
Hereditary persistence of fetal haemoglobin deletion type Occurrence True Congenital Inferred relationship Some 3
Alpha plus thalassaemia deletion type Occurrence True Congenital Inferred relationship Some 3
Beta zero thalassaemia Occurrence True Congenital Inferred relationship Some 3
HPFH linked to beta-globulin gene cluster Occurrence True Congenital Inferred relationship Some 3
^A^gamma delta beta^0^ thalassaemia Occurrence True Congenital Inferred relationship Some 3
Beta zero thalassaemia non deletion type Occurrence True Congenital Inferred relationship Some 3
Homozygous hemoglobinopathy Occurrence True Congenital Inferred relationship Some 1
Heterozygous haemoglobinopathy Occurrence True Congenital Inferred relationship Some 1
Hereditary haemoglobinopathy due to globin chain mutation Occurrence True Congenital Inferred relationship Some 1
Sickle cell-haemoglobin SS disease Occurrence True Congenital Inferred relationship Some 3
Sickle cell-beta-thalassaemia Occurrence True Congenital Inferred relationship Some 4
Sickle cell beta plus thalassaemia Occurrence True Congenital Inferred relationship Some 4
Sickle cell-beta^0^-thalassaemia Occurrence True Congenital Inferred relationship Some 4
Sickle cell-delta beta^0^-thalassaemia Occurrence True Congenital Inferred relationship Some 4
Sickle cell anaemia with coexistent alpha-thalassaemia Occurrence True Congenital Inferred relationship Some 4
Sickle cell trait with coexistent alpha-thalassaemia Occurrence True Congenital Inferred relationship Some 3
Sickle cell-haemoglobin Lepore disease Occurrence True Congenital Inferred relationship Some 1
Sickle cell-Haemoglobin O Arab disease Occurrence True Congenital Inferred relationship Some 1
Alpha trait thalassaemia Occurrence True Congenital Inferred relationship Some 3

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Reference Sets

Qualifier value foundation reference set

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