| syndroom van verstandelijke beperking, epileptische aanvallen, hypogonadisme en hypogenitalisme, microcefalie en obesitas (aandoening) | | syndroom van verstandelijke beperking, epileptische aanvallen, hypogonadisme en hypogenitalisme, microcefalie en obesitas | | syndroom van mentale retardatie, epileptische aanvallen, hypogonadisme en hypogenitalisme, microcefalie en obesitas
MEHMO-syndroom
syndroom van verstandelijke handicap, epileptische aanvallen, hypogonadisme en hypogenitalisme, microcefalie en obesitas
| | MEHMO syndrome | | X-linked intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome
MEHMO (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity) syndrome
Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome
Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome
| | A rare X-linked syndromic intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Obesity, early-onset diabetes and epilepsy are more variably present. |
| | Id | 722037004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 85282 |
| 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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