| syndroom van verstandelijke beperking, obesitas, prognathie en afwijkingen van oog en huid (aandoening) | | syndroom van verstandelijke beperking, obesitas, prognathie en afwijkingen van oog en huid | | syndroom van verstandelijke handicap, obesitas, prognathie en afwijkingen van oog en huid
MOMES-syndroom
syndroom van mentale retardatie, obesitas, prognathie en afwijkingen van oog en huid
| | Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome | | MOMES syndrome
| | A rare genetic syndromic intellectual disability disorder with characteristics of mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism and crowding of teeth. |
| | Id | 774102003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.0 | | Term | Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan |
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| SNOMED CT to Orphanet simple map | 397973 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | 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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