| syndroom van verstandelijke beperking, macrocefalie, hypotonie en gedragsstoornis (aandoening) | | syndroom van verstandelijke beperking, macrocefalie, hypotonie en gedragsstoornis | | syndroom van mentale retardatie, macrocefalie, verlaagde spierspanning en gedragsstoornis
syndroom van verstandelijke handicap, macrocefalie, lage spiertonus en gedragsstoornis
| | Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | | A rare syndromic intellectual disability with characteristics of hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported. |
| | Id | 1254652005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 457279 |
| 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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