| Global developmental delay, intellectual disability, microcephaly, short stature, brain iron accumulation syndrome (disorder) | | Global developmental delay, intellectual disability, microcephaly, short stature, brain iron accumulation syndrome | | BCAS3-related neurodevelopmental disorder
Hengel Maroofian Schols syndrome
| | A rare multiple congenital anomalies/dysmorphic syndrome characterized by infancy/early childhood-onset severe global developmental delay (manifests mostly by delayed sitting and walking/inability to walk), severe intellectual disability with minimal or no speech, pyramidal signs (including lower limb spasticity, hyperreflexia, spastic gait and feet contractures), short stature, microcephaly and dysmorphic facial features (including a long face, strabismus, short philtrum, open mouth, full lips or everted lower lip and teeth abnormalities). Seizures and dystonic/dyskinetic movements may also be present in some patients. |
| | Id | 1396401007 | | 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 |
|
|
