PEHO syndrome - CISMeF

Preferred Label : PEHO syndrome;

CISMeF synonym : PEHO-Like syndrome;

MeSH synonym : infantile cerebellooptic atrophy; progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy;

Details

Origin ID

C536317;

UMLS CUI

C1850055;

Automatic exact mappings (from CISMeF team)
- PEHO syndrome [ICD-11 More detail]
- PEHO syndrome [DO Concept]
- PEHO-like syndrome [ORDO Disease]
- Peho-like syndrome [OMIM Phenotype]
Currated CISMeF NLP mapping
- PEHO syndrome [ORDO Disease]
- Peho syndrome [OMIM Phenotype]
- Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome (disorder) [SNOMED CT concept]
Has phenotype(s) (HPO)
- Bitemporal narrowing [HPO term]
- Cerebellar atrophy, progressive [HPO term]
- Feeding difficulties [HPO term]
- Neuronal loss [HPO term]
- Progressive infantile encephalopathy [HPO term]
- Receding chin [HPO term]
MeSH term(s) associated for indexing
- brain edema [MeSH Descriptor]
- neurodegenerative diseases [MeSH Descriptor]
- optic atrophy [MeSH Descriptor]
- spasms, infantile [MeSH Descriptor]
ORDO relation(s)
- PEHO syndrome [ORDO Disease]
Record concept(s)
- PEHO syndrome [MeSH concept]
- PEHO-Like syndrome [MeSH concept]
See also inter- (CISMeF)
- PEHO-like syndrome [ORDO Disease]
- Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- PEHO syndrome [ORDO Disease]
- PEHO syndrome [MedDRA LLT]
- Peho syndrome [OMIM Phenotype]
- Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome (disorder) [SNOMED CT concept]

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