OMOP Concept 37165081
Short stature, developmental delay, congenital heart defect syndrome
StandardConditionSNOMED1237512003Disorder
Maps from
0
Descendants
0
Valid from
30 Sept 2022
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Short stature, developmental delay, congenital heart defect syndrome across source vocabularies.
- Short stature, developmental delay, congenital heart defect syndrome (disorder)
- síndrome de talla baja, retraso del desarrollo y defectos cardíacos congénitos
- síndrome de talla baja, retraso del desarrollo y defectos cardíacos congénitos (trastorno)
- TKT (transketolase) deficiency disorder
- Transketolase deficiency disorder
- trastorno por deficiencia de TKT (transcetolasa)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(61)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Cardiac complication
- 1Cardiovascular system hereditary disorder
- 1Congenital heart disease
- 1Congenital malformation syndrome
- 1Developmental hereditary disorder
- 1Genetic intellectual disability
- 1Inborn error of metabolism
- 1Pentose disorder
- 1Short stature disorder
- 2Autosomal hereditary disorder
- 2Congenital anomaly of cardiovascular structure of trunk
- 2Congenital anomaly of thorax
- 2Congenital disease
- 2Congenital malformation
- 2Developmental disorder
- 2Disorder of carbohydrate metabolism
- 2Disorder of cardiovascular system
- 2Disorder of stature
- 2Genetic disease
- 2Heart disease
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Hereditary metabolic disease
- 2Intellectual disability
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