FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

66091009: Congenital disease (disorder)

Status: current, Defined. Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

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

9673 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital disease Is a Disease true Inferred relationship Some
Congenital disease Occurrence Congenital true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
FH: Congenital anomaly NOS Associated finding False Congenital disease Inferred relationship Some 1
Congenital instability of hip joint Is a True Congenital disease Inferred relationship Some
Congenital nephrotic syndrome due to diffuse mesangial sclerosis Is a True Congenital disease Inferred relationship Some
Congenital nephrotic syndrome with focal glomerulosclerosis Is a True Congenital disease Inferred relationship Some
Congenital nephrotic syndrome due to congenital infection Is a True Congenital disease Inferred relationship Some
Congenital chronic diarrhoea with protein-losing enteropathy Is a True Congenital disease Inferred relationship Some
Congenital osteodystrophy Is a True Congenital disease Inferred relationship Some
Congenital spondylolisthesis Is a False Congenital disease Inferred relationship Some
Partial defect of ulna Is a False Congenital disease Inferred relationship Some
Congenital bowing of long bone Is a True Congenital disease Inferred relationship Some
Congenital glenoid dysplasia Is a False Congenital disease Inferred relationship Some
Congenital abnormal shape of arch of cervical vertebra Is a False Congenital disease Inferred relationship Some
Frontal bossing Is a False Congenital disease Inferred relationship Some
Pacman dysplasia Is a True Congenital disease Inferred relationship Some
Familial congenital palsy of trochlear nerve Is a False Congenital disease Inferred relationship Some
Inherited congenital spastic tetraplegia Is a True Congenital disease Inferred relationship Some
Autosomal dominant secondary polycythaemia Is a True Congenital disease Inferred relationship Some
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency Is a True Congenital disease Inferred relationship Some
Congenital stenosis of nasal pyriform aperture Is a False Congenital disease Inferred relationship Some
Fetal intrauterine intestinal perforation co-occurrent and due to congenital stenosis of intestinal tract Is a False Congenital disease Inferred relationship Some
Congenital stenosis of intestinal tract Is a False Congenital disease Inferred relationship Some
Neonatal intestinal perforation co-occurrent and due to congenital intestinal stenosis Is a False Congenital disease Inferred relationship Some
Congenital stenosis of eustachian tube Is a False Congenital disease Inferred relationship Some
Congenital hourglass stomach Is a False Congenital disease Inferred relationship Some
Autosomal recessive secondary polycythaemia not associated with VHL (Von Hippel Lindau) gene Is a True Congenital disease Inferred relationship Some
Congenital stenosis of large intestine Is a False Congenital disease Inferred relationship Some
Congenital stenosis of external auditory canal Is a False Congenital disease Inferred relationship Some
Congenital sacral meningocele Is a False Congenital disease Inferred relationship Some
Familial congenital mirror movements Is a True Congenital disease Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome Is a False Congenital disease Inferred relationship Some
Amyotonia congenita Is a True Congenital disease Inferred relationship Some
Congenital failure of eye elevation Is a True Congenital disease Inferred relationship Some
Benign congenital hypotonia Is a True Congenital disease Inferred relationship Some
Congenital non-progressive ataxia Is a True Congenital disease Inferred relationship Some
Congenital central hypoventilation Is a True Congenital disease Inferred relationship Some
X-linked intellectual disability-psychosis-macroorchidism syndrome Is a True Congenital disease Inferred relationship Some
Generalised glucocorticoid resistance syndrome Is a True Congenital disease Inferred relationship Some
Hyperlipoproteinaemia, type I Is a False Congenital disease Inferred relationship Some
Hereditary adrenal unresponsiveness to corticotropin Is a True Congenital disease Inferred relationship Some
Hereditary nephrogenic diabetes insipidus Is a True Congenital disease Inferred relationship Some
X-linked intellectual disability Van Esch type Is a True Congenital disease Inferred relationship Some
Syndromic X-linked intellectual disability type 7 Is a True Congenital disease Inferred relationship Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome Is a False Congenital disease Inferred relationship Some
Hyperinsulinism due to HNF1A deficiency Is a True Congenital disease Inferred relationship Some
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Is a True Congenital disease Inferred relationship Some
Hyperinsulinism due to uncoupling protein 2 deficiency Is a True Congenital disease Inferred relationship Some
Growth delay due to insulin-like growth factor type 1 deficiency Is a True Congenital disease Inferred relationship Some
Pyridoxal 5-phosphate dependent epilepsy Is a True Congenital disease Inferred relationship Some
Autosomal dominant hyperinsulinism due to SUR1 deficiency Is a True Congenital disease Inferred relationship Some
Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency Is a True Congenital disease Inferred relationship Some
Hyperinsulinism due to glucokinase deficiency Is a True Congenital disease Inferred relationship Some
Hyperinsulinism and hyperammonaemia syndrome Is a True Congenital disease Inferred relationship Some
Isolated follicle stimulating hormone deficiency Is a True Congenital disease Inferred relationship Some
Hypomagnesaemia with secondary hypocalcaemia Is a True Congenital disease Inferred relationship Some
Homozygous methylenetetrahydrofolate reductase mutation Is a True Congenital disease Inferred relationship Some
Heterozygous methylenetetrahydrofolate reductase mutation Is a True Congenital disease Inferred relationship Some
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Is a True Congenital disease Inferred relationship Some
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Is a True Congenital disease Inferred relationship Some
Autosomal recessive hyperinsulinism due to SUR1 deficiency Is a True Congenital disease Inferred relationship Some
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Is a True Congenital disease Inferred relationship Some
2-hydroxyglutaric aciduria Is a True Congenital disease Inferred relationship Some
Renal tubular dysgenesis due to drug Is a False Congenital disease Inferred relationship Some
Retinal haemangioblastomatosis Is a True Congenital disease Inferred relationship Some
Congenital nasopharyngeal teratoma Is a True Congenital disease Inferred relationship Some
Fibrous dysplasia of bone Is a True Congenital disease Inferred relationship Some
Congenital pigmented melanocytic naevus Is a True Congenital disease Inferred relationship Some
Neurocutaneous syndrome Is a True Congenital disease Inferred relationship Some
Legius syndrome Is a True Congenital disease Inferred relationship Some
Lipoma due to neurospinal dysraphism Is a True Congenital disease Inferred relationship Some
Congenital diffuse lipomatosis Is a True Congenital disease Inferred relationship Some
Congenital chondrolysis Is a True Congenital disease Inferred relationship Some
Congenital epignathus Is a True Congenital disease Inferred relationship Some
Encephalocraniocutaneous lipomatosis Is a True Congenital disease Inferred relationship Some
Congenital talipes equinovarus Is a True Congenital disease Inferred relationship Some
Autosomal recessive Charcot-Marie-Tooth disease type 2 Is a False Congenital disease Inferred relationship Some
Segmental lymphangiomatosis Is a True Congenital disease Inferred relationship Some
Systemic lymphangiomatosis Is a True Congenital disease Inferred relationship Some
Autosomal dominant sideroblastic anaemia Is a True Congenital disease Inferred relationship Some
Hereditary congenital prekallikrein deficiency Is a True Congenital disease Inferred relationship Some
Congenital infection caused by Lymphocytic choriomeningitis virus Is a True Congenital disease Inferred relationship Some
Natal tooth Is a True Congenital disease Inferred relationship Some
X-linked corneal dermoid Is a True Congenital disease Inferred relationship Some
X-linked neurodegenerative syndrome Bertini type Is a True Congenital disease Inferred relationship Some
Isolated generalised anhidrosis with normal sweat glands Is a True Congenital disease Inferred relationship Some
Non-syndromic mitochondrial sensorineural deafness Is a True Congenital disease Inferred relationship Some
Nemaline myopathy, early onset type Is a True Congenital disease Inferred relationship Some
Congenital trochlear nerve palsy Is a True Congenital disease Inferred relationship Some
Congenital oculomotor nerve palsy Is a True Congenital disease Inferred relationship Some
Congenital horizontal gaze palsy Is a True Congenital disease Inferred relationship Some
Isolated congenital horizontal gaze paresis Is a True Congenital disease Inferred relationship Some
Congenital monocular elevator palsy Is a True Congenital disease Inferred relationship Some
Congenital isolated adrenocorticotropic hormone deficiency Is a True Congenital disease Inferred relationship Some
Congenital pseudopapilloedema Is a True Congenital disease Inferred relationship Some
Congenital insensitivity to pain with severe intellectual disability Is a True Congenital disease Inferred relationship Some
Congenital axonal neuropathy with encephalopathy Is a True Congenital disease Inferred relationship Some
Congenital meningocele Is a False Congenital disease Inferred relationship Some
Myofibromatosis Is a False Congenital disease Inferred relationship Some
Congenital anomalies of tongue, mouth and pharynx Is a False Congenital disease Inferred relationship Some
Congenital functional disorders of the small intestine Is a False Congenital disease Inferred relationship Some
Congenital anomaly of the thymus Is a False Congenital disease Inferred relationship Some
Congenital anomaly of endocrine gland Is a False Congenital disease Inferred relationship Some

Page 1 of 7 Next End

Reference Sets

Emergency department reference set

Australian emergency department reference set

NSW Emergency Department reference set

Clinical finding foundation reference set

Emergency department diagnosis reference set

Problem/Diagnosis reference set

Back to Start