| syndroom van verstandelijke beperking, hypotonie, brachycefalie, pylorusstenose en cryptorchisme (aandoening) | | syndroom van verstandelijke beperking, hypotonie, brachycefalie, pylorusstenose en cryptorchisme | | syndroom van verstandelijke handicap, hypotonie, brachycefalie, pylorusstenose en cryptorchisme
syndroom van mentale retardatie, hypotonie, brachycefalie, pylorusstenose en cryptorchisme
| | Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome | | A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depressed nasal bridge, high-arched, wide palate, thin upper lip), impaired neurological development with intellectual disability, hypotonia, pyloric stenosis, pectus excavatum, bilateral cryptorchidism and short stature. |
| | Id | 773621003 | | 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 | 314575 |
| 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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