| syndroom van retinitis pigmentosa, gehoorverlies, voortijdige veroudering, korte gestalte en faciale dysmorfie (aandoening) | | syndroom van retinitis pigmentosa, gehoorverlies, voortijdige veroudering, korte gestalte en faciale dysmorfie | | Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome | | Retinitis pigmentosa, deafness, premature aging, short stature, facial dysmorphism syndrome
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears) and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination. |
| | Id | 1172605003 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 494439 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.1 | | Rule | TRUE | | Advice | ALWAYS Q87.1 | 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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