255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Congenital

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome	Occurrence	False	Congenital	Inferred relationship	Some	4
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome	Occurrence	False	Congenital	Inferred relationship	Some	5
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
16p13.3 microduplication syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
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 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Distal myopathy with posterior leg and anterior hand involvement (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
distal myopati med tidigt engagemang av andningsmuskler	Occurrence	False	Congenital	Inferred relationship	Some	2
distal myopati med tidigt engagemang av andningsmuskler	Occurrence	False	Congenital	Inferred relationship	Some	3
Carney complex (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Carney complex (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Carney complex (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Thalassemia intermedia	Occurrence	True	Congenital	Inferred relationship	Some	3
Haemoglobin Bart's hydrops syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
A>gamma< beta^+^ HPFH AND beta^0^ thalassemia in cis	Occurrence	True	Congenital	Inferred relationship	Some	3
Hemoglobin D trait	Occurrence	True	Congenital	Inferred relationship	Some	1
beta^+^ Thalassemia, normal Hb A>2<, type 2	Occurrence	True	Congenital	Inferred relationship	Some	3
Delta beta thalassemia (disorder)	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 hemoglobin thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Unstable hemoglobin disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Heterozygous thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Double heterozygous sickling disorder	Occurrence	True	Congenital	Inferred relationship	Some	1
Epsilon gamma delta beta thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Hemoglobin E disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Sickle cell-hemoglobin D disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Homozygous beta thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Beta zero thalassemia deletion type	Occurrence	True	Congenital	Inferred relationship	Some	3
HPFH unlinked to beta-globulin gene cluster	Occurrence	True	Congenital	Inferred relationship	Some	3
Sickle cell-hemoglobin C disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Alpha plus thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Sickle cell-thalassemia disease	Occurrence	True	Congenital	Inferred relationship	Some	4
HPFH A gamma beta^+^ thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Hemoglobin E trait	Occurrence	True	Congenital	Inferred relationship	Some	1
Sickle cell-hemoglobin E disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Thalassemia with other hemoglobinopathy	Occurrence	True	Congenital	Inferred relationship	Some	3
Beta plus thalassemia normal hemoglobin A>2< type 1 silent (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Hemoglobin H disease	Occurrence	True	Congenital	Inferred relationship	Some	3
Hemoglobin C disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary persistence of fetal hemoglobin delta beta plus thalassemia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
HPFH nondeletion type	Occurrence	True	Congenital	Inferred relationship	Some	3
Hereditary persistence of fetal hemoglobin G gamma beta plus thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Thalassemia-hemoglobin C disease	Occurrence	True	Congenital	Inferred relationship	Some	3
Delta zero thalassemia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Beta thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Alpha zero thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Hemoglobin D disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Alpha thalassemia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Hb Lepore thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Epsilon gamma delta beta^0^ thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Jeune thoracic dystrophy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Thalassemia major	Occurrence	True	Congenital	Inferred relationship	Some	3
Hemoglobin C trait	Occurrence	True	Congenital	Inferred relationship	Some	1
Delta beta zero thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Beta plus thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Thalassemia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Alpha plus thalassemia non deletion type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
HPFH deletion type	Occurrence	True	Congenital	Inferred relationship	Some	3
Alpha plus thalassaemia deletion type	Occurrence	True	Congenital	Inferred relationship	Some	3
Beta zero thalassemia	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^ thalassemia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Beta zero thalassemia non deletion type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Homozygous hemoglobinopathy	Occurrence	True	Congenital	Inferred relationship	Some	1
Heterozygous hemoglobinopathy	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary hemoglobinopathy due to globin chain mutation	Occurrence	True	Congenital	Inferred relationship	Some	1
Sickle cell-hemoglobin SS disease	Occurrence	True	Congenital	Inferred relationship	Some	3
Sickle cell-beta-thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	4
Sickle cell beta plus thalassaemia	Occurrence	True	Congenital	Inferred relationship	Some	4
Sickle cell-beta^0^-thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	4
Sickle cell-delta beta^0^-thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	4
Sickle cell anemia with coexistent alpha-thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	4
Sickle cell trait with coexistent alpha-thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Sickle cell-hemoglobin Lepore disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Sickle cell-Hemoglobin O Arab disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Alpha trait thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Beta thalassemia intermedia	Occurrence	True	Congenital	Inferred relationship	Some	3
Hereditary persistence of fetal hemoglobin	Occurrence	True	Congenital	Inferred relationship	Some	1
Homozygous alpha thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Alpha thalassemia-2 trait	Occurrence	True	Congenital	Inferred relationship	Some	3
Haemoglobin Constant Spring trait	Occurrence	True	Congenital	Inferred relationship	Some	3
Hemoglobin Lepore trait	Occurrence	True	Congenital	Inferred relationship	Some	3
Delta-beta-Lepore thalassaemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Alpha-beta thalassemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Gamma thalassaemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Sickle cell anemia with high hemoglobin F	Occurrence	True	Congenital	Inferred relationship	Some	4
Hemoglobin E/beta thalassemia disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital methemoglobinemia with abnormal methemoglobins	Occurrence	True	Congenital	Inferred relationship	Some	1
Beta thalassaemia trait	Occurrence	True	Congenital	Inferred relationship	Some	3
alfatalassemi-psykisk utvecklingsstörning	Occurrence	False	Congenital	Inferred relationship	Some	3
Acquired hemoglobin H disease	Occurrence	True	Congenital	Inferred relationship	Some	3
Hemoglobin SS disease without crisis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3

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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
135131000052119	medfödd	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)