| Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder) | | Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome | | KDM3B-related intellectual disability, facial dysmorphism, short stature syndrome
Diets Jongmans syndrome
| | A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild or moderate intellectual disability, developmental delay, short stature and facial dysmorphism (long ears, prominent nasal tip, low columella, thin upper lip, broad mouth and prominent chin) due to KDM3B mutations. Neonatal feeding difficulties, childhood hypotonia, and behavior problems were also reported in some patients. |
| | Id | 1351843001 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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