Preferred Label : Neonatal adrenoleukodystrophy;
ICD-11 definition : Neonatal adrenoleukodystrophy is a rare neurodegenerative disorder that belongs to
the group of inherited peroxisomal disorders and that is characterized by seizures
from birth, diffuse encephalopathy, chorioretinopathy and optic nerve dysplasia, sensorineural
hearing deficiency, peripheral neuropathy, facial dysmorphism, failure to thrive,
severely delayed psychomotor development and multiple biochemical abnormalities, including
increased plasma levels of very-long-chain fatty acids (VLCFA), phytanic acid and
bile fluid trihydroxycoprostanic acid.;
ICD-11 synonym : Autosomal recessive neonatal adrenoleukodystrophy; NALD - [neonatal adrenoleukodystrophy];
ICD-11 acronym : NALD;
Origin ID : 478178009;
UMLS CUI : C0282525;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
Neonatal adrenoleukodystrophy is a rare neurodegenerative disorder that belongs to
the group of inherited peroxisomal disorders and that is characterized by seizures
from birth, diffuse encephalopathy, chorioretinopathy and optic nerve dysplasia, sensorineural
hearing deficiency, peripheral neuropathy, facial dysmorphism, failure to thrive,
severely delayed psychomotor development and multiple biochemical abnormalities, including
increased plasma levels of very-long-chain fatty acids (VLCFA), phytanic acid and
bile fluid trihydroxycoprostanic acid.
