| syndroom van macrocefalie, verstandelijke beperking, neurobiologische ontwikkelingsstoornis en kleine thorax (aandoening) | | syndroom van macrocefalie, verstandelijke beperking, neurobiologische ontwikkelingsstoornis en kleine thorax | | MINDS-syndroom
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
| | 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. |
| | Id | 1187304005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 457485 |
| 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 |
|
|
