| syndroom van macrocefalie, obesitas, verstandelijke beperking en oogafwijking (aandoening) | | syndroom van macrocefalie, obesitas, verstandelijke beperking en oogafwijking | | MOMO-syndroom
syndroom van macrocefalie, obesitas, mentale retardatie en oogafwijking
syndroom van macrocefalie, obesitas, verstandelijke handicap en oogafwijking
| | MOMO syndrome | | Macrocephaly, obesity, mental disability, ocular abnormality syndrome
MOMO (macrocephaly, obesity, mental disability, ocular abnormality) syndrome
| | A very rare genetic overgrowth/obesity syndrome with characteristics of macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype. |
| | Id | 724137002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.3 | | Term | Congenitale gestoorde-ontwikkelingssyndromen met vroege versterkte groei |
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| SNOMED CT to Orphanet simple map | 2563 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.3 | | Rule | TRUE | | Advice | ALWAYS Q87.3 | 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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