| syndroom van verstandelijke beperking, spierzwakte, kleine gestalte en faciale dysmorfie (aandoening) | | syndroom van verstandelijke beperking, spierzwakte, kleine gestalte en faciale dysmorfie | | syndroom van verstandelijke handicap, spierzwakte, kleine gestalte en dysmorfie van aangezicht
syndroom van mentale retardatie, spierzwakte, dwerggroei en faciale dysmorfie
| | Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of intellectual disability, developmental delay, delayed bone age, short stature, generalized muscle weakness and dysmorphic facial features (such as high arched eyebrows, downslanting palpebral fissures, prominent nose and narrow palate and mouth). Additional reported manifestations include blue sclerae, ophthalmoplegia and intention tremor. Brain imaging may show white matter abnormalities. |
| | Id | 1208746001 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 457365 |
| 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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