Preferred Label : X-linked creatine transporter deficiency;
ICD-11 definition : X-linked creatine transporter deficiency is a very rare creatine transport disorder
characterized clinically by intellectual deficit, seizures, severe speech delay and
sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in
the cases of affected male patients reported to date.;
ICD-11 synonym : X-linked intellectual deficit - seizures - short stature - midface hypoplasia; X-linked creatine deficiency syndrome;
Origin ID : 1208619155;
UMLS CUI : C1845862;
- Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
X-linked creatine transporter deficiency is a very rare creatine transport disorder
characterized clinically by intellectual deficit, seizures, severe speech delay and
sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in
the cases of affected male patients reported to date.