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
Temple Baraitser syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Temple Baraitser syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Atelosteogenesis type 1 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Atelosteogenesis type 3 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Atrial septal defect, atrioventricular conduction defect syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Atrial septal defect, atrioventricular conduction defect syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Auricular abnormality, cleft lip, ocular abnormality syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
Auricular abnormality, cleft lip, ocular abnormality syndrome	Occurrence	False	Congenital	Inferred relationship	Some	4
Auricular abnormality, cleft lip, ocular abnormality syndrome	Occurrence	False	Congenital	Inferred relationship	Some	5
Omodysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant omodysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive omodysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
5-amino-4-imidazole carboxamide ribosiduria (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
5-amino-4-imidazole carboxamide ribosiduria (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Combined immunodeficiency due to partial recombination-activating gene 1 deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Defect of purinergic receptor p2y G protein-coupled 12 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
syndrom med paraplegi, brakydaktyli och konformad epifys	Occurrence	False	Congenital	Inferred relationship	Some	5
syndrom med paraplegi, brakydaktyli och konformad epifys	Occurrence	False	Congenital	Inferred relationship	Some	6
syndrom med paraplegi, brakydaktyli och konformad epifys	Occurrence	False	Congenital	Inferred relationship	Some	7
Mucolipidosis type IV (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Glycogen phosphorylase kinase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
X-bunden brist på glykogenfosforylaskinas	Occurrence	False	Congenital	Inferred relationship	Some	1
Glycogen phosphorylase kinase deficiency, autosomal recessive	Occurrence	True	Congenital	Inferred relationship	Some	1
Cardiac glycogen phosphorylase kinase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Hepatic and muscle glycogen phosphorylase kinase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Hepatic glycogen phosphorylase kinase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Embryopathy caused by retinoid (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
syndrom med cerebral gigantism och käkcystor	Occurrence	False	Congenital	Inferred relationship	Some	1
Centripetalis recessive dystrophic epidermolysis bullosa (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Centripetalis recessive dystrophic epidermolysis bullosa (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Congenital muscular dystrophy Paradas type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital muscular dystrophy Paradas type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Autosomal recessive faciodigitogenital syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Autosomal recessive faciodigitogenital syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Autosomal recessive faciodigitogenital syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Polydactyly of biphalangeal thumb (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital aplasia of lacrimal structure (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Distal muscular dystrophy with juvenile onset	Occurrence	False	Congenital	Inferred relationship	Some	2
Distal myopathy 2	Occurrence	False	Congenital	Inferred relationship	Some	1
Carbohydrate deficient glycoprotein syndrome type 2d (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Bathing suit ichthyosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Genetic recurrent myoglobinuria (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital enterocyte heparan sulfate deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital duplication of rectum (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital radial deviation of finger (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant myoglobinuria (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Genochondromatosis type 2 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Infundibulopelvic stenosis multicystic kidney syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Intellectual disability Buenos Aires type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
McCune Albright syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
McCune Albright syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
McCune Albright syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Myotonia congenita (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital sacral meningocele	Occurrence	True	Congenital	Inferred relationship	Some	1
Neurofaciodigitorenal syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Neurofaciodigitorenal syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Neurofaciodigitorenal syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Hereditary hypercarotenemia and vitamin A deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
X-linked diffuse leiomyomatosis with Alport syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
X-linked diffuse leiomyomatosis with Alport syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
X-linked diffuse leiomyomatosis with Alport syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Distal myopathy Welander type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Distal myopathy Welander type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Cutis marmorata	Occurrence	False	Congenital	Inferred relationship	Some	2
Reticulate vascular nevus	Occurrence	True	Congenital	Inferred relationship	Some	1
Nevus sanguineous	Occurrence	True	Congenital	Inferred relationship	Some	1
Mixed haemangioma	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital livedo reticularis	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of descending thoracic aorta (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of abdominal aorta (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Compression of trachea and esophagus co-occurrent and due to congenital anomaly of aortic arch (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Compression of trachea and esophagus co-occurrent and due to congenital anomaly of aortic arch (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Compression of trachea and esophagus co-occurrent and due to congenital anomaly of aortic arch (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
kongenitalt icke-rupturerat cerebralt aneurysm	Occurrence	False	Congenital	Inferred relationship	Some	1
Myeloid leukemia co-occurrent with Down syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Suprabasal epidermolysis bullosa simplex (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Suprabasal epidermolysis bullosa simplex (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Congenital venous malformation of skin (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Cystic hygroma in fetus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Ataxia co-occurrent and due to phytanic acid storage disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Keratinopathic ichthyosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary skin peeling syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Cystic hygroma in fetus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Isolated optic nerve hypoplasia (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)