Creatine deficiency, X-linked

Preferred Label : Creatine deficiency, X-linked;

CISMeF synonym : Mental retardation , X-linked, with creatine transport deficiency;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0530059;

UMLS CUI

C1845862;

Currated CISMeF NLP mapping
- Cerebral Creatine Deficiency Syndrome 1 [NCIt concept]
- Cerebral creatine deficiency syndrome 1 [OMIM Phenotype]
- X linked creatine transporter deficiency [Disease (Nov.)]
- X-linked creatine deficiency (disorder) [SNOMED CT concept]
- X-linked creatine transporter deficiency [ORDO Disease]
- X-linked creatine transporter deficiency [ICD-11 More detail]
- creatine transporter deficiency [DO Concept]
Related record
- creatine deficiency, X-linked [MeSH Supplementary 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 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]
- X-linked creatine transporter deficiency [ICD-11 More detail]
- creatine transporter deficiency [DO Concept]

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