| 'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2'-gerelateerd syndroom van blefarofimose en verstandelijke beperking (aandoening) | | SMARCA2-gerelateerd syndroom van blefarofimose en verstandelijke beperking | | SMARCA2-gerelateerd syndroom van vernauwde structuur van ooglidspleet en verstandelijke handicap
SMARCA2-gerelateerd syndroom van blefarostenose en mentale retardatie
'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2'-gerelateerd syndroom van blefarofimose en verstandelijke beperking
| | SMARCA2-related blepharophimosis, intellectual disability syndrome | | SMARCA2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2) related blepharophimosis, intellectual disability syndrome
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome
| | A rare genetic syndromic intellectual disability disorder characterized by global developmental delay, often with severe hypotonia and limited mobility, intellectual disability (mild to severe) with absent or significantly impaired speech and behavioral problems. Craniofacial features include blepharophimosis, epicanthal folds, sparse eyebrows and eyelashes, broad nasal bridge, short nose with downturned tip, open mouth with thin upper vermillion, and abnormal ears. |
| | Id | 1300198006 | | Status | Primitive |
| 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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