| 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
| | MEHMO syndrome has characteristics of severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of who died within the first two years of life. The causative gene has been located to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction. |
| | 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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