| syndroom van verstandelijke beperking, hartafwijking, kleine gestalte en gewrichtslaxiteit (aandoening) | | syndroom van verstandelijke beperking, hartafwijking, kleine gestalte en gewrichtslaxiteit | | syndroom van verstandelijke handicap, hartafwijking, kleine gestalte en gewrichtslaxiteit
syndroom van mentale retardatie, hartafwijking, kleine gestalte en gewrichtslaxiteit
| | Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome | | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of intrauterine and postnatal growth restriction, global developmental delay, intellectual disability and dysmorphic facial features (such as broad nasal root, anteverted nares, long philtrum, low-set and posteriorly rotated ears and short neck). Additional reported manifestations are microcephaly, short stature, vertebral abnormalities, joint laxity, ocular, cardiac, and renal defects and minor limb anomalies. Brain imaging may show hypoplastic corpus callosum, delayed myelination and cerebral atrophy. |
| | Id | 1186729007 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 508498 |
| 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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