| syndroom van verstandelijke beperking, craniofaciale dysmorfie en cryptorchisme (aandoening) | | syndroom van verstandelijke beperking, craniofaciale dysmorfie en cryptorchisme | | syndroom van verstandelijke handicap, craniofaciale dysmorfie en cryptorchisme
syndroom van mentale retardatie, craniofaciale dysmorfie en cryptorchisme
| | Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome | | A rare genetic syndromic intellectual disability characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected). Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or ocular defects, may be observed. |
| | Id | 773581009 | | 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 | 329224 |
| 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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