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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
Seizures, scoliosis, macrocephaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Short stature, brachydactyly, obesity, global developmental delay syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Short stature, brachydactyly, obesity, global developmental delay syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Short stature, brachydactyly, obesity, global developmental delay syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital lordosis deformity of spine due to congenital malformation of skeletal bone (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital paraplegia	Occurrence	True	Congenital	Inferred relationship	Some	2
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Partially involuting congenital hemangioma (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital lordosis deformity of spine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital lordosis and scoliosis deformity of spine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital lordosis and scoliosis deformity of spine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Unilateral multicystic renal dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Unilateral multicystic renal dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	2
Glycogen storage disease due to aldolase A deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Deficiency of galactose mutarotase	Occurrence	True	Congenital	Inferred relationship	Some	1
Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Reticular dysgenesis	Occurrence	True	Congenital	Inferred relationship	Some	3
Severe combined immunodeficiency with reticular dysgenesis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Wiskott-Aldrich autosomal dominant variant syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Reticular dysgenesis with congenital aleucocytosis	Occurrence	True	Congenital	Inferred relationship	Some	4
PEX5 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
PEX6 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Beta chain electron transfer flavoprotein deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Alpha chain electron transfer flavoprotein deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Severe infantile form of carnitine palmitoyltransferase II deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
PEX1 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Electron transfer flavoprotein-ubiquinone oxidoreductase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
PEX10 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
PEX13 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
PEX12 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
PEX16 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
PEX14 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
PEX26 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
PEX3 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
PEX19 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
PEX2 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Non-syndromic mitochondrial sensorineural deafness (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Neonatal form of carnitine palmitoyltransferase II deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Myopathic form of carnitine palmitoyltransferase II deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Basel Vanagaite Smirin Yosef syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Nephropathic cystinosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Lumbosacral agenesis	Occurrence	True	Congenital	Inferred relationship	Some	2
Deficiency in coenzyme Q10 in HMG-CoA reductase inhibitor therapy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Lumbosacral agenesis	Occurrence	False	Congenital	Inferred relationship	Some	1
Neuropsychiatric disorder	Occurrence	True	Congenital	Inferred relationship	Some	1

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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)