Preferred Label : Rett syndrome;
Definition : An inherited neurological developmental disorder that is associated with X-linked
inheritance and may be lethal in utero to hemizygous males. The affected female is
normal until the age of 6-25 months when progressive loss of voluntary control of
hand movements and communication skills; ataxia; seizures; autistic behavior; intermittent
hyperventilation; and hyperammonemia appear. (From Menkes, Textbook of Child Neurology,
5th ed, p199) [MeSH];
UMLS CUI (RADLEX) : C0035372;
Origin ID : RID5166;
UMLS CUI : C0035372;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
An inherited neurological developmental disorder that is associated with X-linked
inheritance and may be lethal in utero to hemizygous males. The affected female is
normal until the age of 6-25 months when progressive loss of voluntary control of
hand movements and communication skills; ataxia; seizures; autistic behavior; intermittent
hyperventilation; and hyperammonemia appear. (From Menkes, Textbook of Child Neurology,
5th ed, p199) [MeSH]