Pitt-Hopkins syndrome

Preferred Label : Pitt-Hopkins syndrome;

MeSH synonym : mental retardation, syndromal, with intermittent hyperventilation; encephalopathy, severe epileptic, with autonomic dysfunction; pitt hopkins syndrome;

Details

Origin ID

C537403;

UMLS CUI

C1970431;

CISMeF manual mappings
- Pitt-Hopkins-like syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Pitt Hopkins syndrome [Disease (Nov.)]
- Pitt-Hopkins Syndrome [NCIt concept]
- Pitt-Hopkins syndrome [DO Concept]
- Pitt-Hopkins syndrome [ICD-11 More detail]
- Pitt-Hopkins syndrome [ORDO Disease]
- Pitt-Hopkins syndrome (disorder) [SNOMED CT concept]
- Pitt-hopkins syndrome [OMIM Phenotype]
DO Cross reference
- Pitt-Hopkins syndrome [DO Concept]
MeSH term(s) associated for indexing
- facies [MeSH Descriptor]
- hyperventilation [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Ne pas confondre avec
- Pitt-Hopkins-like syndrome [ORDO Disease]
ORDO relation(s)
- Pitt-Hopkins syndrome [ORDO Disease]
Record concept(s)
- Pitt-Hopkins syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pitt Hopkins syndrome [Disease (Nov.)]
- Pitt-Hopkins Syndrome [NCIt concept]
- Pitt-Hopkins syndrome [ORDO Disease]
- Pitt-Hopkins syndrome [DO Concept]
- Pitt-Hopkins syndrome (disorder) [SNOMED CT concept]
- Pitt-Hopkins-like syndrome [ORDO Disease]
- Pitt-hopkins syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

Main resources

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