| syndroom van retinitis pigmentosa, juveniel cataract, kleine gestalte en verstandelijke beperking (aandoening) | | syndroom van retinitis pigmentosa, juveniel cataract, kleine gestalte en verstandelijke beperking | | syndroom van retinitis pigmentosa, juveniele cataract, dwerggroei en verstandelijke handicap
| | Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome | | Retinal dystrophy, juvenile cataract, short stature syndrome
| | A rare genetic syndromic rod-cone dystrophy disorder with characteristics of psychomotor developmental delay from early childhood, intellectual disability, short stature, mild facial dysmorphism (e.g. upslanted palpebral fissures, hypoplastic alae nasi, malar hypoplasia, attached earlobes), excessive dental spacing and malocclusion, juvenile cataract and ophthalmologic findings of atypical retinitis pigmentosa (i.e. salt-and-pepper retinopathy, attenuated retinal arterioles, generalized rod-cone dysfunction, mottled macula, peripapillary sparing of retinal pigment epithelium). |
| | Id | 1220597000 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 436245 |
| 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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