syndroom van verstandelijke beperking, obesitas van romp, retinadystrofie en micropenis (aandoening) | | syndroom van verstandelijke beperking, obesitas van romp, retinadystrofie en micropenis | | MORM-syndroom syndroom van verstandelijke handicap, obesitas van romp, retinadystrofie en micropenis syndroom van mentale retardatie, obesitas van romp, retinadystrofie en micropenis
| | MORM syndrome | | MORM (mental retardation, truncal obesity, retinal dystrophy, micropenis) syndrome Mental retardation, truncal obesity, retinal dystrophy and micropenis syndrome Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome
| | A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life. |
| Id | 715628009 | 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 | 75858 |
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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