| syndroom van 'stromal antigen 1'-gerelateerde verstandelijke beperking, faciale dysmorfie en gastro-oesofageale reflux (aandoening) | | syndroom van STAG1-gerelateerde verstandelijke beperking, faciale dysmorfie en gastro-oesofageale reflux | | syndroom van STAG1-gerelateerde mentale retardatie, faciale dysmorfie en gastro-oesofageale reflux
syndroom van STAG1-gerelateerde verstandelijke handicap, faciale dysmorfie en GOR
syndroom van 'stromal antigen 1'-gerelateerde verstandelijke beperking, faciale dysmorfie en gastro-oesofageale reflux
| | STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome | | Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, variable degrees of intellectual disability and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastroesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy). |
| | Id | 1187041000 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 502434 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | 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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