255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Fetal and/or neonatal period\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Fetal and/or neonatal period\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	false	Inferred relationship	Some
Congenital	Is a	Fetal and/or neonatal period	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
HNSHA due to glucose phosphate isomerase deficiency	Occurrence	False	Congenital	Inferred relationship	Some
Low assimilation pelvis	Occurrence	False	Congenital	Inferred relationship	Some
Fumarylacetoacetase deficiency, chronic type	Occurrence	False	Congenital	Inferred relationship	Some
Accessory lung	Occurrence	False	Congenital	Inferred relationship	Some
Steroid 21-monooxygenase deficiency, simple virilizing type	Occurrence	False	Congenital	Inferred relationship	Some
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Occurrence	False	Congenital	Inferred relationship	Some
Congenital atresia of pulmonary valve	Occurrence	False	Congenital	Inferred relationship	Some
Deficiency of N-acetylgalactosamine-4-sulfatase	Occurrence	True	Congenital	Inferred relationship	Some	1
Albinoidisme	Occurrence	False	Congenital	Inferred relationship	Some
Congenital supravalvular pulmonary stenosis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital hip dysplasia	Occurrence	False	Congenital	Inferred relationship	Some
Cutis laxa senilis	Occurrence	False	Congenital	Inferred relationship	Some
Longitudinal deficiency of femur	Occurrence	False	Congenital	Inferred relationship	Some
Rathke's pouch cyst	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of vas deferens	Occurrence	False	Congenital	Inferred relationship	Some
Oral-facial-digital syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Bovine spongiform encephalopathy	Occurrence	False	Congenital	Inferred relationship	Some
Congenital atresia of glottis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of vagina	Occurrence	False	Congenital	Inferred relationship	Some
Congenital dyserythropoietic anemia	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital gastric perforation	Occurrence	False	Congenital	Inferred relationship	Some
Prolinuria	Occurrence	False	Congenital	Inferred relationship	Some
Congenital atresia of trachea	Occurrence	False	Congenital	Inferred relationship	Some
Vascular compression of esophagus by aberrant artery	Occurrence	False	Congenital	Inferred relationship	Some
Inborn error of pyruvate metabolism	Occurrence	True	Congenital	Inferred relationship	Some	1
Spina bifida with hydrocephalus	Occurrence	False	Congenital	Inferred relationship	Some	6
Platypellic pelvis	Occurrence	False	Congenital	Inferred relationship	Some
Complete trisomy 20 syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Phosphoenolpyruvate carboxykinase (GTP) deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Anomaly of chromosome pair 16 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
kerubisme	Occurrence	False	Congenital	Inferred relationship	Some
Brunner's gland adenoma	Occurrence	False	Congenital	Inferred relationship	Some
Testicular regression syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Embryonal nuclear cataract	Occurrence	False	Congenital	Inferred relationship	Some
Peutz-Jeghers polyps of small bowel	Occurrence	False	Congenital	Inferred relationship	Some
Uterus subseptus	Occurrence	False	Congenital	Inferred relationship	Some
Accessory lacrimal canal	Occurrence	False	Congenital	Inferred relationship	Some
Anemia following fetal blood loss	Occurrence	True	Congenital	Inferred relationship	Some	4
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Encephalocystocele	Occurrence	False	Congenital	Inferred relationship	Some
Beaked pelvis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital hallux valgus	Occurrence	False	Congenital	Inferred relationship	Some
Nodular embryo	Occurrence	False	Congenital	Inferred relationship	Some
Lithopedion	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of renal pelvis	Occurrence	False	Congenital	Inferred relationship	Some
Kniest dysplasia	Occurrence	False	Congenital	Inferred relationship	Some
Sternum bifidum	Occurrence	False	Congenital	Inferred relationship	Some
The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression.	Occurrence	False	Congenital	Inferred relationship	Some
Classical maple syrup urine disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital syphilitic mucous patches	Occurrence	False	Congenital	Inferred relationship	Some
Monocuspid cardiac valve	Occurrence	False	Congenital	Inferred relationship	Some
Congenital pancreatic trypsin deficiency	Occurrence	False	Congenital	Inferred relationship	Some
Congenital aneurysm of sinus of Valsalva	Occurrence	False	Congenital	Inferred relationship	Some
Congenital cyst of canal of Nuck	Occurrence	False	Congenital	Inferred relationship	Some
Hidrotic ectodermal dysplasia syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of cerebral artery	Occurrence	False	Congenital	Inferred relationship	Some
Transposition of appendix	Occurrence	False	Congenital	Inferred relationship	Some
Ichthyosis linearis circumflexa	Occurrence	False	Congenital	Inferred relationship	Some
Congenital corneal opacity not interfering with vision	Occurrence	False	Congenital	Inferred relationship	Some
Congenital fusion of ossicles of ear	Occurrence	False	Congenital	Inferred relationship	Some
Peutz-Jeghers syndrome	Occurrence	False	Congenital	Inferred relationship	Some
3 beta-Hydroxysteroid dehydrogenase deficiency	Occurrence	False	Congenital	Inferred relationship	Some
Pancreas divisum	Occurrence	False	Congenital	Inferred relationship	Some
Congenital hypertrophy of pylorus	Occurrence	False	Congenital	Inferred relationship	Some
Osteogenesis imperfecta with progressive deformity AND normal sclerae	Occurrence	False	Congenital	Inferred relationship	Some
Hereditary xanthinuria	Occurrence	False	Congenital	Inferred relationship	Some
Uterus biforis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital hypoplasia of pulmonary artery	Occurrence	False	Congenital	Inferred relationship	Some
Mobile cecum	Occurrence	False	Congenital	Inferred relationship	Some
Xanthoma planum of eyelid	Occurrence	False	Congenital	Inferred relationship	Some
Synchilia	Occurrence	False	Congenital	Inferred relationship	Some
Ectopic gray matter in centrum ovale	Occurrence	False	Congenital	Inferred relationship	Some
13p partial trisomy syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Dalmatian leukodystrophy	Occurrence	False	Congenital	Inferred relationship	Some
Straight back syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital structural abnormality of orbit proper (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Multiple sulfatase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
misfoster	Occurrence	False	Congenital	Inferred relationship	Some
An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group. Clinical signs include slowly developing intellectual disability beginning with clumsiness, late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis. Caused by mutations in gene AGU located on 4q34.3. Transmission is autosomal recessive.	Occurrence	False	Congenital	Inferred relationship	Some
Double kidney	Occurrence	False	Congenital	Inferred relationship	Some
Hepatic porphyria	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of small intestine	Occurrence	False	Congenital	Inferred relationship	Some
Dens in dente	Occurrence	False	Congenital	Inferred relationship	Some
Infantile hypophosphatasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital pseudoarthrosis of tibia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
2p partial trisomy syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital laryngeal stridor	Occurrence	False	Congenital	Inferred relationship	Some
Cor triatriatum	Occurrence	False	Congenital	Inferred relationship	Some
Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta	Occurrence	False	Congenital	Inferred relationship	Some
Congenital malposition of kidney	Occurrence	False	Congenital	Inferred relationship	Some
Anomalous origin of left circumflex artery from right coronary artery	Occurrence	False	Congenital	Inferred relationship	Some
Nezelof's syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of testis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital diverticulum of trachea	Occurrence	False	Congenital	Inferred relationship	Some
Ethmocephalus	Occurrence	False	Congenital	Inferred relationship	Some
Arthrochalasia Ehlers-Danlos syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Unilateral agenesi af nyre	Occurrence	False	Congenital	Inferred relationship	Some
Arylsulfatase deficiency without metachromatic leukodystrophy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Muscle L-lactate dehydrogenase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Albinotic fundus	Occurrence	False	Congenital	Inferred relationship	Some
Hay-Wells syndrome of ectodermal dysplasia	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
2235951000005117	kongenit	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)