OMOP Concept 440508
Congenital disease
StandardConditionSNOMED66091009Disorder
Maps from
47
Descendants
10,987
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
47 source codes normalize to Congenital disease via the OMOP "Maps to" relationship.
Synonyms
Alternative names recorded for Congenital disease across source vocabularies.
- Congenital disease (disorder)
- Congenital disorder
- enfermedad congénita
- enfermedad congénita (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(3)Roll up to these when you need a wider cohort.
Narrower concepts
(10,987)Included automatically when you query with descendants.
- 12-hydroxyglutaric aciduria
- 1Action myoclonus renal failure syndrome
- 1Amyotonia congenita
- 1Anophthalmos of left eye
- 1Anophthalmos of right eye
- 1Asexual dwarfism
- 1Autosomal dominant congenital benign spinal muscular atrophy
- 1Autosomal dominant hyperinsulinism due to SUR1 deficiency
- 1Autosomal dominant keratitis
- 1Autosomal dominant secondary polycythemia
- 1Autosomal dominant sideroblastic anemia
- 1Autosomal dominant slowed nerve conduction velocity
- 1Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome
- 1Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- 1Autosomal recessive hyperinsulinism due to SUR1 deficiency
- 1Autosomal recessive secondary polycythemia not associated with VHL (Von Hippel Lindau) gene
- 1Autosomal recessive sideroblastic anemia
- 1Benign congenital hypotonia
- 1Biallelic RPE65 mutation associated retinal dystrophy
- 1Biermer's congenital pernicious anemia
- 1Biotin-thiamine-responsive basal ganglia disease
- 1Cap myopathy
- 1Carney Stratakis syndrome
- 1Charcot-Marie-Tooth disease type 4
- 1Chronic diarrhea due to glucoamylase deficiency
- 1Chuvash erythrocytosis
- 1Combined pancreatic lipase and colipase deficiency
- 1Combined pituitary hormone deficiency genetic form
- 1Congenital absence of entire right hand
- 1Congenital absence of left external ear
- 1Congenital absence of left ovary
- 1Congenital absence of right external ear
- 1Congenital absence of right ovary
- 1Congenital absence of soft tissue of distal phalanx of finger
- 1Congenital accessory skin tag
- 1Congenital achalasia of esophagus
- 1Congenital alpha-2-antiplasmin deficiency
- 1Congenital analbuminemia
- 1Congenital anemia
- 1Congenital anomaly of animal tail
- 1Congenital atrophy of left lobe of liver
- 1Congenital atrophy of optic nerve
- 1Congenital atrophy of thyroid
- 1Congenital auditory imperception
- 1Congenital axial myopia
- 1Congenital axonal neuropathy with encephalopathy
- 1Congenital benign giant pigmented nevus of skin
- 1Congenital blocked tear duct of left eye
- 1Congenital blocked tear duct of right eye
- 1Congenital brain damage
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