OMOP Concept 37160971
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
StandardConditionSNOMED1172685001Disorder
Maps from
0
Descendants
0
Valid from
30 Sept 2021
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome across source vocabularies.
- Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder)
- Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
- síndrome de macrotrombocitopenia, linfedema, retraso del desarrollo, dismorfia facial, camptodactilia
- síndrome de macrotrombocitopenia, linfedema, retraso del desarrollo, dismorfia facial, camptodactilia (trastorno)
- Takenouchi Kosaki syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(71)Roll up to these when you need a wider cohort.
- 1Autosomal dominant hereditary disorder
- 1Congenital thrombocytopenia
- 1Genetic intellectual disability
- 1Global developmental delay
- 1Hereditary lymphedema
- 1Hereditary thrombocytopenic disorder
- 1Megakaryocytic thrombocytopenia
- 1Multiple malformation syndrome with facial-limb defects as major feature
- 1Neurodevelopmental delay
- 2Autosomal hereditary disorder
- 2Congenital anomaly of limb
- 2Congenital disease
- 2Developmental delay
- 2Developmental hereditary disorder
- 2Genetic disease
- 2Inherited platelet disorder
- 2Intellectual disability
- 2Multiple malformation syndrome with facial defects as major feature
- 2Multiple malformation syndrome with limb defect as major feature
- 2Neurodevelopmental disorder
- 2Primary lymphedema
- 2Thrombocytopenic disorder
- 3Abnormal behavior
- 3Congenital anomaly of face
- 3Congenital malformation
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