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66091009: Congenital disease (disorder)

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

Descriptions:

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

10200 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital disease (disorder) Is a Disease false Inferred relationship Some
Congenital disease (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital disease (disorder) Is a Disorder of foetus and/or newborn true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked non progressive cerebellar ataxia (disorder) Is a False Congenital disease (disorder) Inferred relationship Some
X-linked distal spinal muscular atrophy type 3 (disorder) Is a False Congenital disease (disorder) Inferred relationship Some
XTE syndrome Is a False Congenital disease (disorder) Inferred relationship Some
Congenital pes cavus Is a False Congenital disease (disorder) Inferred relationship Some
Congenital varus deformity of foot Is a False Congenital disease (disorder) Inferred relationship Some
Congenital obstruction of ureteral orifice Is a False Congenital disease (disorder) Inferred relationship Some
Epidermoid cyst of spleen (disorder) Is a False Congenital disease (disorder) Inferred relationship Some
Congenital talipes equinus Is a False Congenital disease (disorder) Inferred relationship Some
Congenital talipes calcaneus Is a False Congenital disease (disorder) Inferred relationship Some
Congenital vertical talus Is a False Congenital disease (disorder) Inferred relationship Some
Congenital positional talipes (disorder) Is a False Congenital disease (disorder) Inferred relationship Some
Congenital talipes calcaneovalgus Is a False Congenital disease (disorder) Inferred relationship Some
Reticulate acropigmentation of Kitamura Is a True Congenital disease (disorder) Inferred relationship Some
Hereditary factor IX deficiency disease Is a True Congenital disease (disorder) Inferred relationship Some
Hereditary factor XI deficiency disease Is a True Congenital disease (disorder) Inferred relationship Some
Congenital forefoot varus Is a False Congenital disease (disorder) Inferred relationship Some
Congenital rearfoot varus Is a False Congenital disease (disorder) Inferred relationship Some
Congenital melanosis Is a True Congenital disease (disorder) Inferred relationship Some
Cor biloculare Is a False Congenital disease (disorder) Inferred relationship Some
Chuvash erythrocytosis Is a True Congenital disease (disorder) Inferred relationship Some
Congenital instability of hip joint Is a True Congenital disease (disorder) Inferred relationship Some
Congenital nephrotic syndrome due to diffuse mesangial sclerosis (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Congenital nephrotic syndrome with focal glomerulosclerosis Is a True Congenital disease (disorder) Inferred relationship Some
Congenital nephrotic syndrome due to congenital infection (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Congenital chronic diarrhea with protein-losing enteropathy (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Congenital osteodystrophy Is a True Congenital disease (disorder) Inferred relationship Some
Congenital spondylolisthesis Is a False Congenital disease (disorder) Inferred relationship Some
Partial defect of ulna Is a False Congenital disease (disorder) Inferred relationship Some
Congenital bowing of long bone (disorder) Is a False Congenital disease (disorder) Inferred relationship Some
Congenital glenoid dysplasia Is a False Congenital disease (disorder) Inferred relationship Some
Congenital abnormal shape of arch of cervical vertebra Is a False Congenital disease (disorder) Inferred relationship Some
Frontal bossing Is a False Congenital disease (disorder) Inferred relationship Some
Pacman dysplasia (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Familial congenital palsy of trochlear nerve (disorder) Is a False Congenital disease (disorder) Inferred relationship Some
Inherited congenital spastic tetraplegia Is a True Congenital disease (disorder) Inferred relationship Some
Autosomal dominant secondary polycythemia (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency Is a True Congenital disease (disorder) Inferred relationship Some
Congenital stenosis of nasal pyriform aperture (disorder) Is a False Congenital disease (disorder) Inferred relationship Some
Fetal intrauterine intestinal perforation co-occurrent and due to congenital stenosis of intestinal tract Is a False Congenital disease (disorder) Inferred relationship Some
Congenital stenosis of intestinal tract Is a False Congenital disease (disorder) Inferred relationship Some
Neonatal intestinal perforation co-occurrent and due to congenital intestinal stenosis Is a False Congenital disease (disorder) Inferred relationship Some
Congenital stenosis of eustachian tube Is a False Congenital disease (disorder) Inferred relationship Some
Congenital hourglass stomach (disorder) Is a False Congenital disease (disorder) Inferred relationship Some
Autosomal recessive secondary polycythemia not associated with Von Hippel Lindau gene (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Congenital stenosis of large intestine (disorder) Is a False Congenital disease (disorder) Inferred relationship Some
Congenital stenosis of external auditory canal Is a False Congenital disease (disorder) Inferred relationship Some
Congenital sacral meningocele Is a False Congenital disease (disorder) Inferred relationship Some
Familial congenital mirror movements Is a True Congenital disease (disorder) Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome (disorder) Is a False Congenital disease (disorder) Inferred relationship Some
Amyotonia congenita Is a True Congenital disease (disorder) Inferred relationship Some
Congenital failure of eye elevation Is a True Congenital disease (disorder) Inferred relationship Some
Benign congenital hypotonia Is a True Congenital disease (disorder) Inferred relationship Some
Congenital non-progressive ataxia Is a True Congenital disease (disorder) Inferred relationship Some
Congenital central hypoventilation Is a True Congenital disease (disorder) Inferred relationship Some
PPM-X syndrome Is a False Congenital disease (disorder) Inferred relationship Some
Generalized glucocorticoid resistance syndrome (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Hyperlipoproteinemia, type I Is a False Congenital disease (disorder) Inferred relationship Some
Hereditary adrenal unresponsiveness to corticotropin Is a True Congenital disease (disorder) Inferred relationship Some
Hereditary nephrogenic diabetes insipidus Is a False Congenital disease (disorder) Inferred relationship Some
X-linked intellectual disability Van Esch type (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Syndromic X-linked intellectual disability type 7 (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder) Is a False Congenital disease (disorder) Inferred relationship Some
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Hyperinsulinism due to uncoupling protein 2 deficiency (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Growth delay due to insulin-like growth factor type 1 deficiency (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Pyridoxal 5-phosphate dependent epilepsy (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Hyperinsulinism due to deficiency of glucokinase (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Hyperinsulinism and hyperammonemia syndrome (disorder) Is a False Congenital disease (disorder) Inferred relationship Some
Isolated follicle stimulating hormone deficiency Is a True Congenital disease (disorder) Inferred relationship Some
Hypomagnesemia with secondary hypocalcemia (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Homozygous methylenetetrahydrofolate reductase mutation Is a True Congenital disease (disorder) Inferred relationship Some
Heterozygous methylenetetrahydrofolate reductase mutation (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Is a True Congenital disease (disorder) Inferred relationship Some
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Is a True Congenital disease (disorder) Inferred relationship Some
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Is a True Congenital disease (disorder) Inferred relationship Some
2-hydroxyglutaric aciduria Is a True Congenital disease (disorder) Inferred relationship Some
Renal tubular dysgenesis caused by drug Is a False Congenital disease (disorder) Inferred relationship Some
Retinal hemangioblastomatosis Is a True Congenital disease (disorder) Inferred relationship Some
Congenital teratoma of nasopharynx (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Fibrous dysplasia of bone Is a True Congenital disease (disorder) Inferred relationship Some
Congenital pigmented melanocytic nevus (disorder) Is a False Congenital disease (disorder) Inferred relationship Some
Neurocutaneous syndrome Is a True Congenital disease (disorder) Inferred relationship Some
Legius syndrome Is a True Congenital disease (disorder) Inferred relationship Some
Lipoma due to neurospinal dysraphism Is a True Congenital disease (disorder) Inferred relationship Some
Congenital diffuse lipomatosis Is a True Congenital disease (disorder) Inferred relationship Some
Congenital chondrolysis Is a True Congenital disease (disorder) Inferred relationship Some
Congenital epignathus (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Encephalocraniocutaneous lipomatosis Is a True Congenital disease (disorder) Inferred relationship Some
Congenital talipes equinovarus Is a True Congenital disease (disorder) Inferred relationship Some
Autosomal recessive Charcot-Marie-Tooth disease type 2 Is a False Congenital disease (disorder) Inferred relationship Some
Segmental lymphangiomatosis (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Systemic lymphangiomatosis Is a True Congenital disease (disorder) Inferred relationship Some
Autosomal dominant sideroblastic anemia (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Hereditary congenital prekallikrein deficiency (disorder) Is a True Congenital disease (disorder) Inferred relationship Some
Congenital infection caused by Lymphocytic choriomeningitis virus Is a True Congenital disease (disorder) Inferred relationship Some
Natal tooth Is a True Congenital disease (disorder) Inferred relationship Some
X-linked corneal dermoid (disorder) Is a True Congenital disease (disorder) Inferred relationship Some

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