| syndroom van macrotrombocytopenie, lymfoedeem, ontwikkelingsachterstand, faciale dysmorfie en camptodactylie (aandoening) | | syndroom van macrotrombocytopenie, lymfoedeem, ontwikkelingsachterstand, faciale dysmorfie en camptodactylie | | syndroom van macrotrombopenie, lymfatisch oedeem, ontwikkelingsachterstand, faciale dysmorfie en camptodactylie
syndroom van Takenouchi-Kosaki
Takenouchi-Kosaki-syndroom
| | Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome | | Takenouchi Kosaki syndrome
| | A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (for example synophrys, ptosis, eversion of the lateral portion of the lower eyelid, thin upper lip). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy or white matter changes. |
| | Id | 1172685001 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 487796 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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