X-linked creatine transporter deficiency

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;

Details

Origin ID

1208619155;

UMLS CUI

C1845862;

Currated CISMeF NLP mapping
- Cerebral Creatine Deficiency Syndrome 1 [NCIt concept]
- Cerebral creatine deficiency syndrome 1 [OMIM Phenotype]
- Creatine deficiency, X-linked [MeSH concept]
- X linked creatine transporter deficiency [Disease (Nov.)]
- X-linked creatine deficiency (disorder) [SNOMED CT concept]
- X-linked creatine transporter deficiency [ORDO Disease]
- creatine deficiency, X-linked [MeSH Supplementary Concept]
- creatine transporter deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebral Creatine Deficiency Syndrome 1 [NCIt concept]
- Cerebral creatine deficiency syndrome 1 [OMIM Phenotype]
- Creatine deficiency, X-linked [MeSH concept]
- Creatine transporter deficiency [MedDRA LLT]
- X linked creatine transporter deficiency [Disease (Nov.)]
- X-linked creatine deficiency (disorder) [SNOMED CT concept]
- X-linked creatine transporter deficiency [ORDO Disease]
- creatine deficiency, X-linked [MeSH Supplementary Concept]
- creatine transporter deficiency [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients