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66091009: Congenital disease (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jul 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
109766011 Congenital disease en Synonym Active Entire term case insensitive SNOMED CT core module
500308011 Congenital disorder en Synonym Active Entire term case insensitive SNOMED CT core module
805666017 Congenital disease (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

9730 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital disease Is a Disease true Inferred relationship Existential restriction modifier
Congenital disease Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked non progressive cerebellar ataxia Is a False Congenital disease Inferred relationship Existential restriction modifier
X-linked distal spinal muscular atrophy type 3 Is a False Congenital disease Inferred relationship Existential restriction modifier
Xeroderma, talipes and enamel defect syndrome Is a False Congenital disease Inferred relationship Existential restriction modifier
Congenital pes cavus Is a False Congenital disease Inferred relationship Existential restriction modifier
Congenital varus deformity of foot Is a False Congenital disease Inferred relationship Existential restriction modifier
Congenital obstruction of ureteral orifice Is a False Congenital disease Inferred relationship Existential restriction modifier
Epidermoid cyst of spleen Is a False Congenital disease Inferred relationship Existential restriction modifier
Congenital talipes equinus Is a False Congenital disease Inferred relationship Existential restriction modifier
Congenital talipes calcaneus Is a False Congenital disease Inferred relationship Existential restriction modifier
Congenital vertical talus Is a False Congenital disease Inferred relationship Existential restriction modifier
Congenital positional talipes Is a False Congenital disease Inferred relationship Existential restriction modifier
Congenital talipes calcaneovalgus Is a False Congenital disease Inferred relationship Existential restriction modifier
Reticulate acropigmentation of Kitamura Is a True Congenital disease Inferred relationship Existential restriction modifier
Hereditary factor IX deficiency disease Is a True Congenital disease Inferred relationship Existential restriction modifier
Hereditary factor XI deficiency disease Is a True Congenital disease Inferred relationship Existential restriction modifier
Congenital forefoot varus Is a False Congenital disease Inferred relationship Existential restriction modifier
Congenital rearfoot varus Is a False Congenital disease Inferred relationship Existential restriction modifier
Congenital melanosis Is a True Congenital disease Inferred relationship Existential restriction modifier
Cor biloculare Is a False Congenital disease Inferred relationship Existential restriction modifier
Chuvash erythrocytosis Is a True Congenital disease Inferred relationship Existential restriction modifier
Congenital instability of hip joint Is a True Congenital disease Inferred relationship Existential restriction modifier
Congenital nephrotic syndrome due to diffuse mesangial sclerosis Is a True Congenital disease Inferred relationship Existential restriction modifier
Congenital nephrotic syndrome with focal glomerulosclerosis Is a True Congenital disease Inferred relationship Existential restriction modifier
Congenital nephrotic syndrome due to congenital infection Is a True Congenital disease Inferred relationship Existential restriction modifier
Congenital chronic diarrhea with protein-losing enteropathy Is a True Congenital disease Inferred relationship Existential restriction modifier
Congenital osteodystrophy Is a True Congenital disease Inferred relationship Existential restriction modifier
Congenital spondylolisthesis Is a False Congenital disease Inferred relationship Existential restriction modifier
Partial defect of ulna Is a False Congenital disease Inferred relationship Existential restriction modifier
Congenital bowing of long bone Is a True Congenital disease Inferred relationship Existential restriction modifier
Congenital glenoid dysplasia Is a False Congenital disease Inferred relationship Existential restriction modifier
Congenital abnormal shape of arch of cervical vertebra Is a False Congenital disease Inferred relationship Existential restriction modifier
Frontal bossing Is a False Congenital disease Inferred relationship Existential restriction modifier
Pacman dysplasia Is a True Congenital disease Inferred relationship Existential restriction modifier
Familial congenital palsy of trochlear nerve Is a False Congenital disease Inferred relationship Existential restriction modifier
Inherited congenital spastic tetraplegia Is a True Congenital disease Inferred relationship Existential restriction modifier
Autosomal dominant secondary polycythemia Is a True Congenital disease Inferred relationship Existential restriction modifier
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency Is a True Congenital disease Inferred relationship Existential restriction modifier
Congenital stenosis of nasal pyriform aperture Is a False Congenital disease Inferred relationship Existential restriction modifier
Fetal intrauterine intestinal perforation co-occurrent and due to congenital stenosis of intestinal tract Is a False Congenital disease Inferred relationship Existential restriction modifier
Congenital stenosis of intestinal tract Is a False Congenital disease Inferred relationship Existential restriction modifier
Neonatal intestinal perforation co-occurrent and due to congenital intestinal stenosis Is a False Congenital disease Inferred relationship Existential restriction modifier
Congenital stenosis of eustachian tube Is a False Congenital disease Inferred relationship Existential restriction modifier
Congenital hourglass stomach Is a False Congenital disease Inferred relationship Existential restriction modifier
Autosomal recessive secondary polycythemia not associated with Von Hippel Lindau gene Is a True Congenital disease Inferred relationship Existential restriction modifier
Congenital stenosis of large intestine Is a False Congenital disease Inferred relationship Existential restriction modifier
Congenital stenosis of external auditory canal Is a False Congenital disease Inferred relationship Existential restriction modifier
Congenital sacral meningocele Is a False Congenital disease Inferred relationship Existential restriction modifier
Familial congenital mirror movements Is a True Congenital disease Inferred relationship Existential restriction modifier
Blepharophimosis epicanthus inversus ptosis syndrome Is a False Congenital disease Inferred relationship Existential restriction modifier
Amyotonia congenita Is a True Congenital disease Inferred relationship Existential restriction modifier
Congenital failure of eye elevation Is a True Congenital disease Inferred relationship Existential restriction modifier
Benign congenital hypotonia Is a True Congenital disease Inferred relationship Existential restriction modifier
Congenital non-progressive ataxia Is a True Congenital disease Inferred relationship Existential restriction modifier
Congenital central hypoventilation Is a True Congenital disease Inferred relationship Existential restriction modifier
X-linked intellectual disability-psychosis-macroorchidism syndrome Is a True Congenital disease Inferred relationship Existential restriction modifier
Generalized glucocorticoid resistance syndrome Is a True Congenital disease Inferred relationship Existential restriction modifier
Familial lipoprotein lipase deficiency Is a False Congenital disease Inferred relationship Existential restriction modifier
Hereditary adrenal unresponsiveness to corticotropin Is a True Congenital disease Inferred relationship Existential restriction modifier
Hereditary nephrogenic diabetes insipidus Is a True Congenital disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Van Esch type Is a True Congenital disease Inferred relationship Existential restriction modifier
Syndromic X-linked intellectual disability type 7 Is a True Congenital disease Inferred relationship Existential restriction modifier
Primary hypergonadotropic hypogonadism and partial alopecia syndrome Is a False Congenital disease Inferred relationship Existential restriction modifier
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency Is a True Congenital disease Inferred relationship Existential restriction modifier
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Is a True Congenital disease Inferred relationship Existential restriction modifier
Hyperinsulinism due to uncoupling protein 2 deficiency Is a True Congenital disease Inferred relationship Existential restriction modifier
Growth delay due to insulin-like growth factor type 1 deficiency Is a True Congenital disease Inferred relationship Existential restriction modifier
Pyridoxal 5-phosphate dependent epilepsy Is a True Congenital disease Inferred relationship Existential restriction modifier
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency Is a True Congenital disease Inferred relationship Existential restriction modifier
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency Is a True Congenital disease Inferred relationship Existential restriction modifier
Hyperinsulinism due to deficiency of glucokinase Is a True Congenital disease Inferred relationship Existential restriction modifier
Hyperinsulinism and hyperammonemia syndrome Is a True Congenital disease Inferred relationship Existential restriction modifier
Isolated follicle stimulating hormone deficiency Is a True Congenital disease Inferred relationship Existential restriction modifier
Hypomagnesemia with secondary hypocalcemia Is a True Congenital disease Inferred relationship Existential restriction modifier
Homozygous methylenetetrahydrofolate reductase mutation Is a True Congenital disease Inferred relationship Existential restriction modifier
Heterozygous methylenetetrahydrofolate reductase mutation Is a True Congenital disease Inferred relationship Existential restriction modifier
Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency Is a True Congenital disease Inferred relationship Existential restriction modifier
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Is a True Congenital disease Inferred relationship Existential restriction modifier
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency Is a True Congenital disease Inferred relationship Existential restriction modifier
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Is a True Congenital disease Inferred relationship Existential restriction modifier
2-hydroxyglutaric aciduria Is a True Congenital disease Inferred relationship Existential restriction modifier
Renal tubular dysgenesis caused by drug Is a False Congenital disease Inferred relationship Existential restriction modifier
Retinal hemangioblastomatosis Is a True Congenital disease Inferred relationship Existential restriction modifier
Congenital teratoma of nasopharynx Is a True Congenital disease Inferred relationship Existential restriction modifier
Fibrous dysplasia of bone Is a True Congenital disease Inferred relationship Existential restriction modifier
Congenital pigmented melanocytic nevus Is a True Congenital disease Inferred relationship Existential restriction modifier
Neurocutaneous syndrome Is a True Congenital disease Inferred relationship Existential restriction modifier
Neurofibromatosis type 1-like syndrome Is a True Congenital disease Inferred relationship Existential restriction modifier
Lipoma due to neurospinal dysraphism Is a True Congenital disease Inferred relationship Existential restriction modifier
Congenital diffuse lipomatosis Is a True Congenital disease Inferred relationship Existential restriction modifier
Congenital chondrolysis of articular cartilage Is a True Congenital disease Inferred relationship Existential restriction modifier
Congenital epignathus Is a True Congenital disease Inferred relationship Existential restriction modifier
Encephalocraniocutaneous lipomatosis Is a True Congenital disease Inferred relationship Existential restriction modifier
Congenital talipes equinovarus Is a True Congenital disease Inferred relationship Existential restriction modifier
Autosomal recessive Charcot-Marie-Tooth disease type 2 Is a False Congenital disease Inferred relationship Existential restriction modifier
Segmental lymphangiomatosis Is a True Congenital disease Inferred relationship Existential restriction modifier
Systemic lymphangiomatosis Is a True Congenital disease Inferred relationship Existential restriction modifier
Autosomal dominant sideroblastic anemia Is a True Congenital disease Inferred relationship Existential restriction modifier
Hereditary congenital prekallikrein deficiency Is a True Congenital disease Inferred relationship Existential restriction modifier
Congenital infection caused by Lymphocytic choriomeningitis virus Is a True Congenital disease Inferred relationship Existential restriction modifier
Natal tooth Is a True Congenital disease Inferred relationship Existential restriction modifier
X-linked corneal dermoid Is a True Congenital disease Inferred relationship Existential restriction modifier

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