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Congenital disease (disorder)
	Congenital disease
	Congenital disorder
	congenitale ziekte
	aangeboren aandoening
	aangeboren aandoening
	Hiermee worden alle ziekten bedoeld die al bij de geboorte aanwezig zijn of in aanleg aanwezig zijn en pas later tot uiting komen.

Id	66091009
Status	Defined

Occurrence

ICD-10 complex map reference set

Target
Rule	TRUE
Advice	MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
Correlation	SNOMED CT source code to target map code correlation not specified

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2-hydroxyglutaric aciduria3

Action myoclonus renal failure syndrome

Amyotonia congenita

Aplasia of proximal femur

Aplasia of radius5

Aplasia of ulna1

Asexual dwarfism3

Autosomal dominant congenital benign spinal muscular atrophy

Autosomal dominant hyperinsulinism due to SUR1 deficiency

Autosomal dominant keratitis

Autosomal dominant secondary polycythemia

Autosomal dominant sideroblastic anemia

Autosomal dominant slowed nerve conduction velocity

Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

Autosomal recessive hyperinsulinism due to SUR1 deficiency

Autosomal recessive secondary polycythemia not associated with VHL (Von Hippel Lindau) gene

Autosomal recessive sideroblastic anemia

Benign congenital hypotonia

Biallelic RPE65 mutation associated retinal dystrophy

Biermer's congenital pernicious anemia

Biotin-thiamine-responsive basal ganglia disease

Carney Stratakis syndrome

Charcot-Marie-Tooth disease type 412

Chronic diarrhea due to glucoamylase deficiency

Chuvash erythrocytosis

Combined pancreatic lipase and colipase deficiency

Combined pituitary hormone deficiency genetic form

Complete diphallus

Congenital absence of lacrimal apparatus

Congenital accessory skin tag

Congenital achalasia of esophagus4

Congenital alpha-2-antiplasmin deficiency

Congenital analbuminemia

Congenital analbuminemia

Congenital anemia27

Congenital atrophy of left lobe of liver

Congenital atrophy of optic nerve7

Congenital atrophy of thyroid

Congenital auditory imperception

Congenital axial myopia

Congenital bowing of long bone2

Congenital brain damage

Congenital calcium pyrophosphate dihydrate crystal deposition disease

Congenital canities

Congenital cardiovascular disorder26

Congenital cardiovascular disorders during pregnancy, childbirth and the puerperium6

Congenital central hypoventilation1

Congenital cerebellar cortical atrophy

Congenital chalasia of esophagus

Congenital chondrolysis

Congenital chromosomal disease15

Congenital chronic diarrhea with protein-losing enteropathy

Congenital color blindness5

Congenital connective tissue disorder45

Congenital cutaneous angiomatosis2

Congenital cutis verticis gyrata1

Congenital cyst of vulva

Congenital dacryocele1

Congenital deficiency of alpha-fetoprotein

Congenital deficiency of intrinsic factor

Congenital diarrhea4

Congenital diffuse lipomatosis

Congenital disorder of facial nerve1

Congenital disorder of gallbladder and biliary tract1

Congenital disorder of intestine20

Congenital disorder of larynx6

Congenital diverticulitis of small intestine

Congenital dysarthria

Congenital dysphasia2

Congenital epignathus

Congenital facial asymmetry2

Congenital failure of eye elevation

Congenital fecaliths causing obstruction

Congenital fibrinogen abnormality3

Congenital folate malabsorption anemia

Congenital functional disorders of the colon5

Congenital functional disorders of the small intestine1

Congenital glaucoma10

Congenital hamartoma10

Congenital hearing disorder24

Congenital hernia of bladder

Congenital horizontal gaze palsy

Congenital hypergonadotropic hypogonadism13

Congenital hyperthyroidism1

Congenital hypertonia

Congenital hypogonadotropic hypogonadism13

Congenital hypothyroidism34

Congenital ichthyosiform erythroderma1

Congenital immunodeficiency disease42

Congenital infection caused by Lymphocytic choriomeningitis virus

Congenital infectious disease9

Congenital instability of hip joint4

Congenital ischemic atrophy of central nervous system structure

Congenital isolated adrenocorticotropic hormone deficiency

Congenital keratoderma4

Congenital lactase deficiency

Congenital lactase deficiency

Congenital laryngeal abductor palsy1

Congenital laryngeal adductor palsy

Congenital laryngeal cyst1

Congenital leptin deficiency

Congenital leptomeningeal angiomatosis1

Congenital lethal erythroderma

Congenital longitudinal deformity of lower leg

Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells

Congenital male infertility5

Congenital malformation112

Congenital malignant melanoma

Congenital malignant neoplastic disease4

Congenital melanosis13

Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization

Congenital methemoglobinemia4

Congenital midline nasal dermoid cyst

Congenital monocular elevator palsy

Congenital monosaccharide malabsorption1

Congenital musculoskeletal deformity89

Congenital myasthenic syndrome4

Congenital myopathy48

Congenital nasopharyngeal teratoma

Congenital nephritis6

Congenital nephropathy27

Congenital nephrotic syndrome due to congenital infection

Congenital nephrotic syndrome due to diffuse mesangial sclerosis

Congenital nephrotic syndrome with focal glomerulosclerosis

Congenital neurological disorder179

Congenital neutrophil actin dysfunction

Congenital non-progressive ataxia2

Congenital nystagmus6

Congenital oculomotor nerve palsy

Congenital onychorrhexis

Congenital orthotopic ureterocele

Congenital osteodystrophy3

Congenital palato-esophageal incoordination

Congenital palmoplantar keratoderma13

Congenital pancreatic trypsin deficiency

Congenital paraplegia

Congenital pigmented melanocytic nevus1

Congenital plasminogen activator inhibitor deficiency type 1

Congenital pneumonia1

Congenital porphyria4

Congenital primary adrenocortical hypofunction

Congenital pseudobulbar palsy

Congenital pseudoporencephaly

Congenital pseudostrabismus

Congenital pulmonary alveolar proteinosis

Congenital pyloric spasm

Congenital quadriplegia

Congenital renal atrophy

Congenital renal cyst5

Congenital restrictive cardiomyopathy

Congenital scoliosis due to bony malformation

Congenital secretory diarrhea3

Congenital sensory neuropathy with selective loss of small myelinated fibers

Congenital sequelae of disorders5

Congenital sixth nerve palsy1

Congenital spastic foot

Congenital spondylolysis1

Congenital stenosing tenosynovitis

Congenital talipes equinovarus1

Congenital thrombocytopenia17

Congenital trigeminal anesthesia

Congenital trochlear nerve palsy1

Congenital underdevelopment of extremity

Congenital uremia

Congenital uremia

Congenital velopharyngeal dysfunction1

Congenital vocal cord palsy

Congenital von Willebrand's disease7

Cup ear deformity

Defect of purinergic receptor p2y G protein-coupled 12

Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency

Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

Double orifice of right atrioventricular valve in double inlet ventricle

Ectopic bone tissue, congenital5

Encephalocraniocutaneous lipomatosis

Erythema palmare hereditarium

Extensive congenital erosions, vesicles and reticulate scarring

Familial congenital mirror movements

Familial focal epilepsy with variable foci

Familial nasal acilia

Fibrous dysplasia of bone27

Fundus albipunctatus

Gelatinous atrioventricular valve leaflet in atrioventricular septal defect

Generalized congenital intestinal dysmotility1

Generalized glucocorticoid resistance syndrome1

Growth delay due to insulin-like growth factor type 1 deficiency

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Hereditary adrenal unresponsiveness to corticotropin

Hereditary anetoderma

Hereditary congenital prekallikrein deficiency

Hereditary factor IX deficiency disease5

Hereditary factor XI deficiency disease3

Hereditary hemoglobinopathy6

Hereditary nephrogenic diabetes insipidus

Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

Heterozygous methylenetetrahydrofolate reductase mutation

Homozygous methylenetetrahydrofolate reductase mutation

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

Hyperinsulinism and hyperammonemia syndrome

Hyperinsulinism due to deficiency of glucokinase

Hyperinsulinism due to HNF1A deficiency

Hyperinsulinism due to HNF4A deficiency

Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Hyperinsulinism due to uncoupling protein 2 deficiency

Hypermethioninemia due to deficiency of glycine N-methyltransferase

Hypermethioninemia encephalopathy due to deficiency of adenosine kinase

Hypomagnesemia with secondary hypocalcemia

Inborn error of metabolism93

Inborn error of metabolism93

Infantile myofibromatosis3

Inherited congenital spastic tetraplegia

Isolated congenital horizontal gaze paresis

Isolated follicle stimulating hormone deficiency

Isolated generalized anhidrosis with normal sweat glands

Leber's amaurosis1

Left atrioventricular valve bifoliate with fused left sided superior and inferior bridging leaflet

Legius syndrome

Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome

Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome

Lipoma due to neurospinal dysraphism

Longitudinal deficiency of forearm2

Longitudinal deficiency of upper arm2

Median facial cleft

Median nodule of upper lip

Metabolic myopathy due to lactate transporter defect

Metachromatic leukodystrophy, congenital type

Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency

Mottled teeth, congenital

Muscle filaminopathy

Myopathy with hexagonally cross-linked tubular arrays

Myotonia congenita3

Nemaline myopathy, early onset type5

Nephrogenic syndrome of inappropriate antidiuresis

Neurocutaneous syndrome18

Non-syndromic mitochondrial sensorineural deafness

Pacman dysplasia

Partial diphallus

Pigmented paravenous retinochoroidal atrophy

Platelet storage pool defect4

Platelet type pseudo-von Willebrand disease

Progressive external ophthalmoplegia, myopathy, emaciation syndrome

Pure mitochondrial myopathy

Pyridoxal 5-phosphate dependent epilepsy

Reticulate acropigmentation of Kitamura

Retinal hemangioblastomatosis

Rolandic epilepsy, speech dyspraxia syndrome

Segmental lymphangiomatosis

Short stature locking fingers syndrome

Single ray syndactyly

Spectrin-associated autosomal recessive cerebellar ataxia

Spheroid body myopathy

Syndromic X-linked intellectual disability type 7

Systemic lymphangiomatosis

Systemic venovenous collateral vein

Tricuspid but functionally bicuspid aortic valve

Trifoliate left atrioventricular valve

Vitamin D-dependent rickets, type 1

Vitamin D-dependent rickets, type 22

X-linked corneal dermoid

X-linked endothelial corneal dystrophy

X-linked hereditary motor and sensory neuropathy6

X-linked intellectual disability Van Esch type

X-linked neurodegenerative syndrome Bertini type