- 1. I cell disease
- [rapidly progressing disease of young children, characterized histologically by abnormal fibroblasts containing a large number of dark inclusions which fill the central part of the cytoplasm except for the juxtanuclear zone (I cells), and clinically by severe growth impairment, minimal hepatomegaly, extreme mental and motor retardation, and clear corneas; inherited as an autosomal recessive trait, it is caused by failure of lysosomal enzymes to be incorporated into lysosomes. ( CSP )] (UMLS (CSP) C0020725) =Disease or Syndrome =inborn lipid storage disorder;
inborn lysosomal enzyme disorder | - 3. ICCS
- (UMLS (HL7) C1611822) =Intellectual Product =Code;
◊ [Commission on Professional and Hospital Activities, 1968 Green Road, Ann Arbor, MI 48105. ( HL7V3.0 )] (UMLS (HL7) C1550220) Intellectual Product CodeSystem; |