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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
109766011 Congenital disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
500309015 Congenital abnormality en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
500310013 Fetal developmental abnormality en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
805666017 Congenital disease (disorder) en Fully specified name Active Only initial character 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
3011638011 Foetal developmental abnormality en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3921000077116 maladie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
10211000188115 pathologie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3921000077116 maladie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
10211000188115 pathologie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

10200 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital disease Is a Disease false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital disease Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital disease Is a Disorder of foetus and/or newborn true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked non progressive cerebellar ataxia (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked distal spinal muscular atrophy type 3 (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
XTE syndrome Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pes cavus Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital varus deformity of foot Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital obstruction of ureteral orifice Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Epidermoid cyst of spleen (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital talipes equinus Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital talipes calcaneus Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital vertical talus Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital positional talipes Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital talipes calcaneovalgus (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Reticulate acropigmentation of Kitamura (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary factor IX deficiency disease (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary factor XI deficiency disease Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital forefoot varus (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital rearfoot varus Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital melanosis (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Cor biloculare Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Chuvash erythrocytosis (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital instability of hip joint Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nephrotic syndrome with evidence of diffuse mesangial sclerosis on histology or with DNA evidence of a genetic mutation associated with diffuse mesangial sclerosis. Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nephrotic syndrome with focal glomerulosclerosis Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nephrotic syndrome with evidence of an underlying congenital infection (e.g. syphilis, toxoplasmosis, rubella, hepatitis B). Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital chronic diarrhea with protein-losing enteropathy (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital osteodystrophy Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital spondylolisthesis Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Partial defect of ulna Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bowing of long bone (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital glenoid dysplasia Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of arch of cervical vertebra Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Frontal bossing Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare primary bone dysplasia characterized by extensive epiphyseal, tarsal, spinal, and sometimes metacarpal and/or phalangeal stippling, severe generalized osteopenia, vertebral clefting, platyspondyly, bowing and shortening of the long bones, and variable periosteal cloaking. Laboratory analysis of lysosomal enzymes reveals normal activity. Histopathology shows numerous giant, multinucleated osteoclasts lining Howship lacunae, consistent with increased bone resorption. The condition manifests prenatally and is presumably lethal in the perinatal period. Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial congenital palsy of trochlear nerve (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Inherited congenital spastic tetraplegia (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant secondary polycythemia Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital stenosis of nasal pyriform aperture (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Fetal intrauterine intestinal perforation co-occurrent and due to congenital stenosis of intestinal tract Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital stenosis of intestinal tract Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal intestinal perforation co-occurrent and due to congenital intestinal stenosis Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital stenosis of eustachian tube Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hourglass stomach (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive secondary polycythaemia not associated with VHL (Von Hippel Lindau) gene Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital stenosis of large intestine Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital stenosis of external auditory canal Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital sacral meningocele Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial congenital mirror movements (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis epicanthus inversus ptosis syndrome Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Amyotonia congenita (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital failure of eye elevation (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Benign congenital hypotonia (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital non-progressive ataxia Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
CCHS - Congenital central hypoventilation (finding) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
PPM-X syndrome Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Generalized glucocorticoid resistance syndrome Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Hyperlipoproteinemia, type I Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary adrenal unresponsiveness to corticotropin Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
diabète insipide néphrogénique héréditaire Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Van Esch type (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 7 (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder) Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterised by hypoglycaemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Growth delay due to insulin-like growth factor type 1 deficiency (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Pyridoxal 5-phosphate dependent epilepsy (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Hyperinsulinism due to HNF4A deficiency Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Hyperinsulinism due to deficiency of glucokinase Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Hyperinsulinism and hyperammonaemia syndrome Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Isolated follicle stimulating hormone deficiency (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Hypomagnesemia with secondary hypocalcemia (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Homozygous methylenetetrahydrofolate reductase mutation Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Heterozygous methylenetetrahydrofolate reductase mutation (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
2-hydroxyglutaric aciduria Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Renal tubular dysgenesis caused by drug Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Retinal hemangioblastomatosis Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital teratoma of nasopharynx (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Fibrous dysplasia of bone Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pigmented melanocytic naevus Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Neurocutaneous syndrome Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Neurofibromatosis type 1-like syndrome (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Lipoma due to neurospinal dysraphism Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital diffuse lipomatosis (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital chondrolysis Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital epignathus (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Encephalocraniocutaneous lipomatosis Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital talipes equinovarus (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive Charcot-Marie-Tooth disease type 2 Is a False Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Segmental lymphangiomatosis (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Systemic lymphangiomatosis Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant sideroblastic anemia (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary congenital prekallikrein deficiency (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital infection caused by Lymphocytic choriomeningitis virus Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
Natal tooth Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked corneal dermoid (disorder) Is a True Congenital disease Inferred relationship Existential restriction modifier (core metadata concept)

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