Concept information
Preferred term
Congenital disease
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Narrower concepts
- 2-hydroxyglutaric aciduria
- AMRF - action myoclonus renal failure
- Autosomal dominant congenital benign spinal muscular atrophy
- Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
- Autosomal dominant keratitis (disorder)
- Autosomal dominant secondary polycythemia (disorder)
- Autosomal dominant slowed nerve conduction velocity
- Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome (disorder)
- Autosomal recessive demyelinating Charcot-Marie-Tooth
- Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
- Autosomal recessive secondary polycythaemia not associated with Von Hippel Lindau gene
- Autosomal recessive sideroblastic anemia (disorder)
- Benign congenital hypotonia
- Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy (disorder)
- Cap myopathy
- Chromosomopathy
- Chronic diarrhea due to glucoamylase deficiency (disorder)
- Chuvash polycythemia
- Combined pancreatic lipase and colipase deficiency
- Congenital achalasia of esophagus
- Congenital analbuminemia (disorder)
- Congenital atrophy of left lobe of liver
- Congenital atrophy of optic nerve (disorder)
- Congenital bowing of long bone (disorder)
- Congenital calcium pyrophosphate dihydrate crystal deposition disease
- Congenital cardiovascular disorder (disorder)
- Congenital cardiovascular disorders during pregnancy, childbirth and the puerperium
- Congenital cerebellar cortical atrophy (disorder)
- Congenital chronic diarrhea with protein-losing enteropathy (disorder)
- Congenital cyst of larynx (disorder)
- Congenital dacryocele (disorder)
- Congenital diffuse lipomatosis
- Congenital diverticulitis of small intestine (disorder)
- Congenital failure of eye elevation
- Congenital fecoliths causing obstruction
- Congenital glaucoma
- Congenital hypogonadotropic hypogonadism (disorder)
- Congenital hypothyroidism
- Congenital infectious disease
- Congenital lactase deficiency
- Congenital laryngeal abductor palsy
- Congenital laryngeal adductor paralysis
- Congenital leptin deficiency
- Congenital lethal erythroderma (disorder)
- Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder)
- Congenital malformation
- Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization (disorder)
- Congenital nephritis
- Congenital nephrotic syndrome due to congenital infection (disorder)
- Congenital nephrotic syndrome due to diffuse mesangial sclerosis (disorder)
- Congenital nephrotic syndrome with focal glomerulosclerosis
- Congenital osteodystrophy
- Congenital plasminogen activator inhibitor deficiency type 1 (disorder)
- Congenital pseudostrabismus
- Congenital pulmonary alveolar proteinosis (disorder)
- Congenital renal atrophy
- Congenital renal cyst (disorder)
- Congenital thrombocytopenia (disorder)
- Congenital uraemia
- Congenital velopharyngeal dysfunction (disorder)
- Defect of purinergic receptor p2y G protein-coupled 12 (disorder)
- Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
- ECCL - Encephalocraniocutaneous lipomatosis
- Ectopic bone tissue
- Erythema palmare hereditarium
- Familial congenital hypopituitarism
- Familial nasal acilia (disorder)
- FFEVF - familial focal epilepsy with variable foci
- Fundus albipunctatus
- Generalised intestinal dysmotility
- Generalized glucocorticoid resistance syndrome (disorder)
- Growth delay due to insulin-like growth factor type 1 deficiency (disorder)
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder)
- Hereditary anetoderma (disorder)
- Hereditary hemoglobinopathy (disorder)
- Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
- Heterozygous methylenetetrahydrofolate reductase mutation (disorder)
- Homozygous methylenetetrahydrofolate reductase mutation
- Hyperinsulinemic hypoglycaemia due to Kir6.2 deficiency, diazoxide-resistant focal form
- Hyperinsulinism and hyperammonemia syndrome (disorder)
- Hyperinsulinism due to deficiency of glucokinase (disorder)
- Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)
- Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder)
- Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)
- Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)
- Hypermethioninemia due to deficiency of glycine N-methyltransferase
- Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)
- Inborn error of metabolism
- Inherited congenital spastic tetraplegia
- Legius syndrome
- Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)
- Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder)
- Median nodule of upper lip (disorder)
- Metabolic myopathy due to lactate transporter defect
- Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency
- Muscle filaminopathy
- Myopathy with hexagonally cross-linked tubular arrays
- Myosclerosis (disorder)
- Myotonia congenita (disorder)
- Nephrogenic syndrome of inappropriate antidiuresis (disorder)
- Neuroectodermal dysplasia
- Otulipenia
- Pacman dysplasia (disorder)
- Paraganglioma and gastric stromal sarcoma syndrome (disorder)
- Pigmented paravenous retinochoroidal atrophy (disorder)
- PPMX - Mental retardation with psychosis, pyramidal signs, and macroorchidism
- Progressive external ophthalmoplegia, myopathy, emaciation syndrome
- Pure mitochondrial myopathy (disorder)
- Pyridoxal 5-phosphate dependent epilepsy (disorder)
- Rolandic epilepsy, speech dyspraxia syndrome (disorder)
- Spectrin-associated autosomal recessive cerebellar ataxia
- Spheroid body myopathy
- Syndromic X-linked intellectual disability type 7 (disorder)
- Systemic lymphangiomatosis
- Thiamine transporter-2 deficiency
- X-linked corneal dermoid (disorder)
- X-linked endothelial dystrophy of cornea (disorder)
- X-linked intellectual disability Van Esch type (disorder)
- X-linked neurodegenerative syndrome Bertini type (disorder)
Is a
Occurrence
In other languages
-
Persian
URI
http://www.irandoc.acir/onto/irandoc/66091009
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