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
Multiple mitochondrial dysfunctions syndrome type 5 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Multiple mitochondrial dysfunctions syndrome type 6 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Rupture of congenital aneurysm of cerebral artery (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Congenital hypoplasia of testis and scrotum (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital occlusion of ureteral orifice (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome	Occurrence	True	Congenital	Inferred relationship	Some	5
Serine biosynthesis pathway deficiency, infantile/juvenile form (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Right streak ovary (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Left streak ovary (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Fanconi anemia of complementation group C	Occurrence	True	Congenital	Inferred relationship	Some	1
Isolated aplasia of optic nerve (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Triopia	Occurrence	True	Congenital	Inferred relationship	Some	1
Triopia	Occurrence	True	Congenital	Inferred relationship	Some	2
Triopia	Occurrence	True	Congenital	Inferred relationship	Some	3
Triopia	Occurrence	True	Congenital	Inferred relationship	Some	4
Inverse Klippel Trénaunay syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Inverse Klippel Trénaunay syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Inverse Klippel Trénaunay syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Lysosomal storage disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital dysplasia of limb (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Sphingolipid activator protein 1 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	3
Metachromatic leukodystrophy without arylsulfatase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	3
Metachromatic leucodystrophy, juvenile type	Occurrence	True	Congenital	Inferred relationship	Some	3
Metachromatic leukodystrophy, late infantile type	Occurrence	True	Congenital	Inferred relationship	Some	3
Gaucher's disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Galactosylceramide beta-galactosidase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	3
Sphingolipidosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Galactocerebroside beta-galactosidase deficiency - early onset	Occurrence	True	Congenital	Inferred relationship	Some	3
Arylsulfatase A deficiency	Occurrence	True	Congenital	Inferred relationship	Some	3
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator	Occurrence	True	Congenital	Inferred relationship	Some	3
Metachromatic leucodystrophy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Perinatal lethal Gaucher disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Autosomal recessive cerebellar ataxia with late-onset spasticity	Occurrence	True	Congenital	Inferred relationship	Some	2
Metachromatic leukodystrophy, adult type	Occurrence	True	Congenital	Inferred relationship	Some	3
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Dystonia due to metachromatic leucodystrophy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	6
Chronic non-neuropathic Gaucher's disease	Occurrence	True	Congenital	Inferred relationship	Some	2
Atypical Gaucher disease due to saposin C deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Acute neuronopathic Gaucher's disease	Occurrence	True	Congenital	Inferred relationship	Some	3
Severe hereditary factor IX deficiency disease with high response inhibitor	Occurrence	True	Congenital	Inferred relationship	Some	2
Severe hereditary factor IX deficiency disease with low response inhibitor (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Moderate hereditary factor IX deficiency disease with high response inhibitor	Occurrence	True	Congenital	Inferred relationship	Some	2
Moderate hereditary factor IX deficiency disease with low response inhibitor (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Mild hereditary factor IX deficiency disease with high response inhibitor	Occurrence	True	Congenital	Inferred relationship	Some	2
Mild hereditary factor IX deficiency disease with low response inhibitor (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital malformation of right renal vein (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital malformation of left renal vein (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital malformation of renal vein	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of left renal vein (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of right renal vein (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of renal vein (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type	Occurrence	True	Congenital	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Ehlers-Danlos syndrome classic type 2	Occurrence	True	Congenital	Inferred relationship	Some	1
Ehlers-Danlos syndrome classic type 2	Occurrence	True	Congenital	Inferred relationship	Some	2
Ehlers-Danlos syndrome classic type 2	Occurrence	True	Congenital	Inferred relationship	Some	3
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
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	6

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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)