| syndroom van cataract, groeihormoondeficiëntie, sensorische neuropathie, perceptief gehoorverlies en skeletdysplasie (aandoening) | | syndroom van cataract, groeihormoondeficiëntie, sensorische neuropathie, perceptief gehoorverlies en skeletdysplasie | | CAGSSS
| | Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome | | CAGSSS - cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome
| | A rare mitochondrial disease with characteristics of a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. |
| | Id | 1220595008 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 436174 |
| SNOMED CT to ICD-10 extended map | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | 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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