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
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hyperinsulinism due to deficiency of glucokinase (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Deficiency of leukotriene C4 synthase (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Deficiency of leukotriene C4 synthase (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Hyperinsulinism and hyperammonemia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Combined pituitary hormone deficiency genetic form (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Familial thyroid dyshormonogenesis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Peripheral resistance to thyroid hormone (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypothyroidism due to mutation in transcription factor of pituitary development (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Deafness and hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Deafness and hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
X-linked intellectual disability Van Esch type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked intellectual disability Cilliers type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Syndromic X-linked intellectual disability type 7 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Primary pigmented nodular adrenocortical disease (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
syndrom med X-bunden intellektuell funktionsnedsättning, för tidig pubertet och fetma	Occurrence	False	Congenital	Inferred relationship	Some	1
X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Lymphedema hypoparathyroidism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Lymphedema hypoparathyroidism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Multiple endocrine neoplasia type 2A (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Hydrocephalus with obesity and hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hyperinsulinism due to insulin receptor deficiency (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Kallman syndrome with heart disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Kallman syndrome with heart disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Paraganglioma and gastric stromal sarcoma syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Paraganglioma and gastric stromal sarcoma syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Retinohepatoendocrinologic syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Retinohepatoendocrinologic syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Retinohepatoendocrinologic syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Nephropathy, deafness, hyperparathyroidism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
laminopati, Decaudain Vigouroux-typ	Occurrence	False	Congenital	Inferred relationship	Some	2
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Growth delay due to insulin-like growth factor type 1 deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Pyridoxal 5-phosphate dependent epilepsy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Pyridoxal 5-phosphate dependent epilepsy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Familial male-limited precocious puberty (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Benign multiple endocrine neoplasia type 2a	Occurrence	False	Congenital	Inferred relationship	Some	2
Malignant multiple endocrine neoplasia type 2a (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Homozygous methylenetetrahydrofolate reductase mutation	Occurrence	True	Congenital	Inferred relationship	Some	1
Heterozygous methylenetetrahydrofolate reductase mutation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Adolescent X-linked adrenoleukodystrophy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Childhood cerebral X-linked adrenoleukodystrophy	Occurrence	True	Congenital	Inferred relationship	Some	1
Beckwith-Wiedemann syndrome	Occurrence	True	Congenital	Inferred relationship	Some	6
Hereditary isolated hypoparathyroidism due to impaired parathormone secretion (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Familial isolated hypoparathyroidism (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
17p11.2 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Ectodermal dysplasia trichoodontoonychial type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Ectodermal dysplasia trichoodontoonychial type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Ectodermal dysplasia trichoodontoonychial type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Chronic diarrhea with villous atrophy syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Wolfram-like syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Wolfram-like syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	6
Wolfram-like syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	7
Intermediate anorectal malformation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Isolated congenital megalocornea (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
49,XYYYY syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal 22q11.2 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Distal 22q11.2 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
12q15q21.1 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2

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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)