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
Congenital pigmentary anomaly of skin	Occurrence	False	Congenital	Inferred relationship	Some
Cutis laxa, x-linked	Occurrence	False	Congenital	Inferred relationship	Some
Congenital atresia of nasopharynx	Occurrence	False	Congenital	Inferred relationship	Some
Cutis laxa, autosomal recessive	Occurrence	False	Congenital	Inferred relationship	Some
Congenital septal defect of heart	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of large intestine	Occurrence	False	Congenital	Inferred relationship	Some
Congenital cytomegalovirus infection	Occurrence	False	Congenital	Inferred relationship	Some
Tryptophan malabsorption syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital dyserythropoietic anemia, type I	Occurrence	True	Congenital	Inferred relationship	Some	5
Holoacardius acormus	Occurrence	False	Congenital	Inferred relationship	Some
Persistent omphalomesenteric artery (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Subacute neuronopathic Gaucher's disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Anomalous pulmonary venous drainage	Occurrence	False	Congenital	Inferred relationship	Some
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
HNSHA due to phosphoglycerate kinase deficiency	Occurrence	False	Congenital	Inferred relationship	Some
Hyperprolinemia	Occurrence	False	Congenital	Inferred relationship	Some
Congenital fusion of sacroiliac joint	Occurrence	False	Congenital	Inferred relationship	Some
Manus plana	Occurrence	False	Congenital	Inferred relationship	Some
Multiple epiphyseal dysplasia	Occurrence	False	Congenital	Inferred relationship	Some
Congenital syphilitic pemphigus	Occurrence	False	Congenital	Inferred relationship	Some
Trifid pelvis of kidney	Occurrence	False	Congenital	Inferred relationship	Some
Glutamate formiminotransferase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Hyperphosphatasemia tarda	Occurrence	False	Congenital	Inferred relationship	Some
Thoracopagus	Occurrence	False	Congenital	Inferred relationship	Some
stor njure	Occurrence	False	Congenital	Inferred relationship	Some
Short cord	Occurrence	False	Congenital	Inferred relationship	Some
2q partial trisomy syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Branchial cleft cyst	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of aorta	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of penis	Occurrence	False	Congenital	Inferred relationship	Some
Mucopolysaccharidosis, MPS-III-B	Occurrence	True	Congenital	Inferred relationship	Some	1
10p partial monosomy syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Moderate steroid 21-hydroxylase deficiency	Occurrence	False	Congenital	Inferred relationship	Some
Congenital stricture of artery	Occurrence	False	Congenital	Inferred relationship	Some
Common arterial trunk and separate origin of pulmonary arteries (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital dislocation of one hip with subluxation of other	Occurrence	False	Congenital	Inferred relationship	Some
Lethal multiple pterygium syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Familial hypobetalipoproteinemia	Occurrence	True	Congenital	Inferred relationship	Some	1
tillväxthämmat embryo	Occurrence	False	Congenital	Inferred relationship	Some
Partial congenital absence of limb	Occurrence	False	Congenital	Inferred relationship	Some
Cleft leaflet of tricuspid valve	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of clitoris	Occurrence	False	Congenital	Inferred relationship	Some
Duane's syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Dermatofibrosis lenticularis disseminata	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of tongue	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of limb	Occurrence	False	Congenital	Inferred relationship	Some
Deep overbite	Occurrence	False	Congenital	Inferred relationship	Some
Congenital viral hepatitis B infection	Occurrence	False	Congenital	Inferred relationship	Some
Megaloblastic anemia due to congenital deficiency of intrinsic factor	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital anomaly of optic disc	Occurrence	False	Congenital	Inferred relationship	Some
Dilated cardiomyopathy due to familial storage disease (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Autosomal dominant epidermolysis bullosa simplex	Occurrence	False	Congenital	Inferred relationship	Some
Maternal PKU fetal effect	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of adrenal gland (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Ring chromosome 9 syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital cyst of mediastinum	Occurrence	False	Congenital	Inferred relationship	Some
Duplication of duodenum	Occurrence	False	Congenital	Inferred relationship	Some
sammansatt missbildat foster	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of stomach	Occurrence	False	Congenital	Inferred relationship	Some
Atrial septal defect with endocardial cushion defect, partial type	Occurrence	False	Congenital	Inferred relationship	Some
Purine-nucleoside phosphorylase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Glycogen storage disease, hepatic form	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital hypoplasia of aortic arch	Occurrence	False	Congenital	Inferred relationship	Some
Hemolytic anemia with emphysema AND cutis laxa	Occurrence	False	Congenital	Inferred relationship	Some
Gardner syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Anomaly of chromosome pair 11 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Heterologous chimera	Occurrence	False	Congenital	Inferred relationship	Some
Congenital ptosis of upper eyelid	Occurrence	False	Congenital	Inferred relationship	Some
Urocanate hydratase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital esophagotracheal fistula	Occurrence	False	Congenital	Inferred relationship	Some
Epidermolysis bullosa	Occurrence	False	Congenital	Inferred relationship	Some
Proline dehydrogenase deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectopic intestinal mucosa	Occurrence	False	Congenital	Inferred relationship	Some
Congenital vascular disease	Occurrence	False	Congenital	Inferred relationship	Some
Microphthalmos	Occurrence	False	Congenital	Inferred relationship	Some
Tetanus omphalitis	Occurrence	False	Congenital	Inferred relationship	Some
Erythropoietic coproporphyria	Occurrence	False	Congenital	Inferred relationship	Some
Infantile fucosidosis	Occurrence	False	Congenital	Inferred relationship	Some
Atresia of foramen of Luschka	Occurrence	False	Congenital	Inferred relationship	Some
Congenital deformity of knee joint	Occurrence	False	Congenital	Inferred relationship	Some
Fragile X syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Hypocholesterolemia	Occurrence	False	Congenital	Inferred relationship	Some
Jarcho-Levin syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Embryonic cyst of vagina (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Glycogenosis with glucoaminophosphaturia	Occurrence	False	Congenital	Inferred relationship	Some
Congenital oculocutaneous hypopigmentation	Occurrence	False	Congenital	Inferred relationship	Some
Juvenile neuronal ceroid lipofuscinosis	Occurrence	True	Congenital	Inferred relationship	Some	3
Turcot syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Exstrophy of bladder sequence	Occurrence	False	Congenital	Inferred relationship	Some
Muscle phosphoglycerate mutase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Rachischisis	Occurrence	True	Congenital	Inferred relationship	Some	3
Ask-Upmark kidney	Occurrence	False	Congenital	Inferred relationship	Some
Porphyria cutanea tarda	Occurrence	False	Congenital	Inferred relationship	Some
Homologous chimera	Occurrence	False	Congenital	Inferred relationship	Some
Longitudinal deficiency of radius	Occurrence	False	Congenital	Inferred relationship	Some
Common truncus arteriosus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Adult neuronal ceroid lipofuscinosis	Occurrence	True	Congenital	Inferred relationship	Some	4
Arterial anomaly of umbilical cord	Occurrence	False	Congenital	Inferred relationship	Some
Splenogonadal fusion	Occurrence	False	Congenital	Inferred relationship	Some
Congenital hourglass stomach (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Hypoplastic left heart syndrome	Occurrence	False	Congenital	Inferred relationship	Some

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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)