| 'myelin transcription factor 1 like'-gerelateerd syndroom van ontwikkelingsachterstand, verstandelijke beperking en obesitas (aandoening) | | MYT1L-gerelateerd syndroom van ontwikkelingsachterstand, verstandelijke handicap en obesitas | | 'myelin transcription factor 1 like'-gerelateerd syndroom van ontwikkelingsachterstand, verstandelijke beperking en obesitas
MYT1L-gerelateerd syndroom van ontwikkelingsachterstand, mentale retardatie en obesitas
| | MYT1L-related developmental delay, intellectual disability, obesity syndrome | | MYT1L-related Prader-Willi-like syndrome
Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome
| | A rare neurodevelopmental syndrome characterized by developmental delay, intellectual disability of varying severity and weight disorders (overweight/obesity and eating behavior disorders including hyperphagia, tachyphagia, food impulsiveness and a feeling of permanent hunger). Additional clinical features include learning difficulties (may be combined with dysphasia, dyspraxia, dyscalculia, dysgraphia), severe language delay, behavioral disorders (stereotypies, impulsiveness or intolerance to frustration, self or hetero aggression, autism spectrum disorder) and non-specific dysmorphism. Epilepsy and ophthalmologic abnormalities can also be observed. Endocrine abnormalities are rarely associated. |
| | Id | 1303866001 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | Q87.1 | | Rule | TRUE | | Advice | ALWAYS Q87.1 | 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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