Preferred Label : Mucolipidosis type 2;
ICD-11 definition : Mucolipidosis II (or I-cell disease) (MLII) is a rare autosomal recessive lysosomal
storage disease due to N-acetylglucosaminyl 1-phosphotransferase deficiency clinically
and radiologically similar to Hürler disease (hypertrophic gingivae and enlarged tongue,
coarse facies, hirsutism, hernias, cutaneous infiltration, limited joint mobility,
dysostosis multiplex, hepatosplenomegaly, corneal opacities, deafness, intellectual
deficit and motor retardation (obvious as early as the age of 6 months), and dwarfism),
but with onset during the first months of life, or sometimes even before birth.;
ICD-11 synonym : N-acetyl-glucosamine 1-phosphotransferase deficiency; Inclusion cell disease; I-cell disease;
CISMeF acronym : MLII;
Origin ID : 1130629620;
Currated CISMeF NLP mapping
- Validated automatic mappings to NTBT
Mucolipidosis II (or I-cell disease) (MLII) is a rare autosomal recessive lysosomal
storage disease due to N-acetylglucosaminyl 1-phosphotransferase deficiency clinically
and radiologically similar to Hürler disease (hypertrophic gingivae and enlarged tongue,
coarse facies, hirsutism, hernias, cutaneous infiltration, limited joint mobility,
dysostosis multiplex, hepatosplenomegaly, corneal opacities, deafness, intellectual
deficit and motor retardation (obvious as early as the age of 6 months), and dwarfism),
but with onset during the first months of life, or sometimes even before birth.
