| infantiel syndroom van neurodegeneratie, progressieve spasticiteit, verstandelijke beperking en laesies van witte stof van hersenen (aandoening) | | infantiel syndroom van neurodegeneratie, progressieve spasticiteit, verstandelijke beperking en laesies van witte stof | | syndroom van neurodegeneratie, progressieve spasticiteit, verstandelijke handicap en laesies van substantia alba bij zuigeling
HPDL-gerelateerde Leigh-achtige encefalopathie
syndroom van neurodegeneratie, progressieve spasticiteit, mentale retardatie en laesies van substantia alba bij zuigeling
| | Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome | | HPDL (4-hydroxyphenylpyruvate dioxygenase like) related infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
HPDL-related Leigh-like encephalopathy
HPDL-related infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome
| | A rare genetic neurological syndrome of variable severity with characteristics of progressive spasticity affecting predominantly the lower limbs. Most patients manifest global developmental delay, moderate to severe intellectual disability and white matter abnormalities in infancy complicated by variable features including seizures, episodic respiratory failure, joint contractures and ocular problems. Some patients have normal early development until later childhood followed by regression in motor, cognitive and language skills over time. Some patients manifest only spastic paraplegia. |
| | Id | 1303585005 | | Status | Primitive |
| SNOMED CT to ICD-10 extended map | | Target | G31.8 | | Rule | TRUE | | Advice | ALWAYS G31.8 | 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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