creatine deficiency, X-linked

Preferred Label : creatine deficiency, X-linked;

MeSH note : Mental retardation , X-linked with seizures, short stature and midface hypoplasia;

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

MeSH synonym : X-linked creatine deficiency syndrome; X-linked creatine transporter deficiency; mental retardation, X-linked, with creatine transport deficiency; creatine deficiency syndrome, X-Linked; mental retardation, X-Linked, with seizures, short stature, and midface hypoplasia; creatine transporter defect; creatine transporter deficiency; Slc6a8 deficiency; Slc6a8-Related creatine transporter deficiency; X-Linked creatine deficiency; CCDS1; Cerebral creatine deficiency syndrome 1;

Details

Origin ID

C535598;

UMLS CUI

C1845862;

Automatic exact mappings (from CISMeF team)
- Creatine transporter deficiency [MedDRA LLT]
- SLC6A8 wt Allele [NCIt concept]
CISMeF manual mappings
- X-linked creatine deficiency (disorder) [SNOMED CT concept]
- X-linked creatine transporter deficiency [ORDO Disease]
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 transporter deficiency [ICD-11 More detail]
- creatine transporter deficiency [DO Concept]
MeSH term(s) associated for indexing
- brain diseases, metabolic, inborn [MeSH Descriptor]
- creatine [MeSH Descriptor]
- mental retardation, X-Linked [MeSH Descriptor]
- plasma membrane neurotransmitter transport proteins [MeSH Descriptor]
Record concept(s)
- Creatine deficiency, X-linked [MeSH 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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