| syndroom van verstandelijke beperking, myopathie, kleine gestalte en endocriene stoornis (aandoening) | | syndroom van verstandelijke beperking, myopathie, kleine gestalte en endocriene stoornis | | syndroom van verstandelijke handicap, myopathie, kleine gestalte en endocriene stoornis
syndroom van Chudley-Rozdilsky
syndroom van mentale retardatie, myopathie, kleine gestalte en endocriene stoornis
| | Intellectual disability, myopathy, short stature, endocrine defect syndrome | | Chudley Rozdilsky syndrome
| | A rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985. |
| | Id | 764959000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 3068 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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