Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder) | | Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome | | Smith Kingsmore syndrome MINDS (macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax) syndrome MINDS syndrome
| | A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, with characteristics of macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge and macrostomia), megalencephaly and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior and cafe-au-lait spots among others. | | syndroom van macrocefalie, verstandelijke beperking, neurobiologische ontwikkelingsstoornis en kleine thorax | | Smith-Kingsmore-syndroom syndroom van macrocefalie, verstandelijke handicap, neurologische ontwikkelingsstoornis en kleine borstkas syndroom van Smith-Kingsmore syndroom van macrocefalie, mentale retardatie, neurobiologische ontwikkelingsstoornis en kleine thorax MINDS-syndroom
|
| Id | 1187304005 | Status | Primitive |
ICD-10 complex map reference set | 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 |
|
|