Ataxia, photosensitivity, short stature syndrome (disorder) | | Ataxia, photosensitivity, short stature syndrome | | Fenton Wilkinson Toselano syndrome
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983. | | syndroom van ataxie, fotosensitiviteit en kleine gestalte | | syndroom van Fenton-Wilkinson-Toselano
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| Id | 773769008 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | 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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