Cerebral Creatine Deficiency Syndrome 1

Preferred Label : Cerebral Creatine Deficiency Syndrome 1;

NCIt synonyms : X-Linked Creatine Transporter Deficiency; CCDS1;

NCIt definition : A rare X-linked inherited disorder. It is caused by mutations in the SLC6A8 gene resulting in the absence of a compound needed to transport creatine into cells. It manifests with intellectual disability, seizures, short stature, and midface hypoplasia.;

Details

Origin ID

C125665;

UMLS CUI

C1845862;

Currated CISMeF NLP mapping
- 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]
- X-linked creatine transporter deficiency [ICD-11 More detail]
- 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 [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]
- X-linked creatine transporter deficiency [ICD-11 More detail]
- creatine deficiency, X-linked [MeSH Supplementary Concept]
- creatine transporter deficiency [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- SLC6A8 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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