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
Dandy-Walker malformation with postaxial polydactyly syndrome	Occurrence	False	Congenital	Inferred relationship	Some	9
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital disorder of glycosylation type 1q (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Microcephalus, lymphedema, chorioretinopathy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Summitt syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
Summitt syndrome	Occurrence	False	Congenital	Inferred relationship	Some	4
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Dementia with Down syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Deletion of part of long arm of chromosome 17 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Deletion of part of long arm of chromosome 17 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital cyst of orbit (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
46,XX disorder of sex development with skeletal anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
46,XX disorder of sex development with skeletal anomalies syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
46,XX disorder of sex development with anorectal anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
46,XX disorder of sex development with anorectal anomalies syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
48,XYYY syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Atypical Norrie disease due to monosomy Xp11.3 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Atypical Norrie disease due to monosomy Xp11.3 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Thoraco-abdominal enteric duplication (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Deficiency of alpha-ketoglutarate dehydrogenase (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Acral dystrophic epidermolysis bullosa (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Acral dystrophic epidermolysis bullosa (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Congenital absence of optic chiasma (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked absence of thyroxine-binding globulin	Occurrence	True	Congenital	Inferred relationship	Some	1
Severe steroid 21-hydroxylase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Iodotyrosine deiodination defect	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant variant form of albumin	Occurrence	True	Congenital	Inferred relationship	Some	1
ärftligt D-vitaminberoendesyndrom, typ 1	Occurrence	False	Congenital	Inferred relationship	Some	1
Iodide transport defect	Occurrence	True	Congenital	Inferred relationship	Some	1
Iodotyrosyl coupling defect	Occurrence	True	Congenital	Inferred relationship	Some	1
Multiple endocrine neoplasia, type 1	Occurrence	False	Congenital	Inferred relationship	Some	2
Inherited disorder of thyroid metabolism	Occurrence	True	Congenital	Inferred relationship	Some	1
Familial adrenocortical hypoplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked reduction of thyroxine-binding globulin	Occurrence	True	Congenital	Inferred relationship	Some	1
Thyroglobulin proteolysis defect	Occurrence	True	Congenital	Inferred relationship	Some	1
Glucocorticoid deficiency with achalasia	Occurrence	True	Congenital	Inferred relationship	Some	2
ärftligt D-vitaminberoendesyndrom, typ 2	Occurrence	False	Congenital	Inferred relationship	Some	1
Thyroid hormone responsiveness defect	Occurrence	True	Congenital	Inferred relationship	Some	1
Iodide oxidation defect	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked excess of thyroxine-binding globulin	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypothyroidism due to defect in thyroid hormone synthesis	Occurrence	True	Congenital	Inferred relationship	Some	1
Thyroxine transport defect	Occurrence	True	Congenital	Inferred relationship	Some	1
Moderate steroid 21-hydroxylase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary nephrogenic diabetes insipidus	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary nephrogenic diabetes insipidus	Occurrence	True	Congenital	Inferred relationship	Some	2
Multiple endocrine neoplasia, type 3	Occurrence	False	Congenital	Inferred relationship	Some	2
Multiple endocrine neoplasia, type 3	Occurrence	False	Congenital	Inferred relationship	Some	3
Multiple endocrine neoplasia, type 2	Occurrence	False	Congenital	Inferred relationship	Some	2
Thyroglobulin synthesis defect	Occurrence	True	Congenital	Inferred relationship	Some	1
Adrenoleukodystrophy	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant excess of transthyretin	Occurrence	True	Congenital	Inferred relationship	Some	1
Pendred's syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary adrenal unresponsiveness to corticotropin	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked variant form of thyroxine-binding globulin	Occurrence	True	Congenital	Inferred relationship	Some	1
ärftligt D-vitaminberoendesyndrom	Occurrence	False	Congenital	Inferred relationship	Some	1
Sotos' syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Thyroxine plasma membrane transport defect	Occurrence	True	Congenital	Inferred relationship	Some	1
Beckwith-Wiedemann syndrome	Occurrence	False	Congenital	Inferred relationship	Some	5
Iodide peroxidase defect	Occurrence	True	Congenital	Inferred relationship	Some	1
Pseudohypoaldosteronism, type 1, dominant form	Occurrence	False	Congenital	Inferred relationship	Some	1
Pseudohypoaldosteronism, type 1, recessive form	Occurrence	False	Congenital	Inferred relationship	Some	1
Hypogonadism with anosmia	Occurrence	True	Congenital	Inferred relationship	Some	1
Refetoff syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypogonadism with prune belly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypogonadism with prune belly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Hypothyroidism due to iodide organification defect	Occurrence	True	Congenital	Inferred relationship	Some	1
Thyroid hormone resistance syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Generalized thyroid hormone resistance	Occurrence	True	Congenital	Inferred relationship	Some	1
D-2(OH) glutaric aciduria	Occurrence	True	Congenital	Inferred relationship	Some	1
D-2(OH) glutaric aciduria	Occurrence	True	Congenital	Inferred relationship	Some	2
L-2(OH) glutaric aciduria	Occurrence	True	Congenital	Inferred relationship	Some	1
L-2(OH) glutaric aciduria	Occurrence	True	Congenital	Inferred relationship	Some	2
Neonatal adrenoleukodystrophy	Occurrence	True	Congenital	Inferred relationship	Some	1
Acyl-CoA oxidase deficiency	Occurrence	False	Congenital	Inferred relationship	Some	1
Pituitary thyroid hormone resistance	Occurrence	True	Congenital	Inferred relationship	Some	1
Thyrotoxicosis due to pituitary thyroid hormone resistance	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary disorder of endocrine system (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
2-hydroxyglutaric aciduria	Occurrence	True	Congenital	Inferred relationship	Some	1
2-hydroxyglutaric aciduria	Occurrence	True	Congenital	Inferred relationship	Some	2
Familial isolated pituitary adenoma	Occurrence	False	Congenital	Inferred relationship	Some	2
Hyperparathyroidism-jaw tumor syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Pseudoprimary hyperaldosteronism (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Hypomagnesemia with secondary hypocalcemia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypomagnesemia with secondary hypocalcemia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Familial aldosterone deficiency (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Hereditary glucocorticoid resistance (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
koroideremi samtidig med hypopituitarism	Occurrence	False	Congenital	Inferred relationship	Some	1
koroideremi samtidig med hypopituitarism	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Exercise-induced hyperinsulinism (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)	Occurrence	False	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)