| syndroom van verstandelijke beperking, faciale dysmorfie en malformatie van hand (aandoening) | | syndroom van verstandelijke beperking, faciale dysmorfie en malformatie van hand | | syndroom van mentale retardatie, faciale dysmorfie en malformatie van hand
syndroom van verstandelijke handicap, faciale dysmorfie en malformatie van hand
| | Intellectual disability, facial dysmorphism, hand anomalies syndrome | | A rare syndromic intellectual disability disorder with characteristics of moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly) and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed. |
| | Id | 773416006 | | 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 | 370010 |
| 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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