arima syndrome

Preferred Label : arima syndrome;

MeSH synonym : joubert syndrome with bilateral chorioretinal coloboma; dekaban arima syndrome; cerebro-oculo-hepato-renal syndrome; chorioretinal coloboma with cerebellar vermis aplasia; Dekaban-Arima syndrome; coloboma, chorioretinal, with cerebellar vermis aplasia;

Détails

Origin ID

C537430;

UMLS CUI

C1855675;

Automatic exact mappings (from CISMeF team)
- Joubert syndrome with oculorenal defect [ICD-11 More detail]
CISMeF manual mappings
- Joubert syndrome with oculorenal defect (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Arima syndrome [OMIM Phenotype]
- Joubert syndrome with oculorenal defect [ORDO Disease]
Has phenotype(s) (HPO)
- Brainstem hypoplasia/dysplasia [HPO term]
- Interstitial fibrosis [HPO term]
- end-stage renal disease develops in childhood [HPO term]
- juvenile nephronophthisis [HPO term]
MeSH term(s) associated for indexing
- cerebellar diseases [MeSH Descriptor]
- coloboma [MeSH Descriptor]
- polycystic kidney diseases [MeSH Descriptor]
Record concept(s)
- Arima syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arima syndrome [OMIM Phenotype]
- Joubert syndrome with oculorenal defect [ORDO Disease]
- Joubert syndrome with oculorenal defect (disorder) [SNOMED CT concept]

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