renpenning syndrome 1

Preferred Label : renpenning syndrome 1;

MeSH synonym : mental retardation, X-linked, syndromic 8; MRXS3; X-linked mental retardation with spastic diplegia; RENS1; Sutherland-Haan syndrome; Sutherland-Haan X-linked mental retardation syndrome; X-linked mental retardation syndromic 3; mental retardation, X-linked renpenning type; MRXS8; mental retardation, X-Linked, renpenning type; mental retardation, X-Linked, syndromic 3; mental retardation, X-Linked, with spastic diplegia; Mrx55; mental retardation, X-Linked 55; Golabi-Ito-Hall syndrome; renpenning syndrome; hamel cerebropalatocardiac syndrome; porteous syndrome; X-Linked intellectual deficit due to Pqbp1 mutations; X-Linked intellectual deficit, renpenning type;

Details

Origin ID

C537761;

UMLS CUI

C0796135;

Automatic exact mappings (from CISMeF team)
- Hamel cerebro-palato-cardiac syndrome [ORDO Disease]
- Hamel cerebro-palato-cardiac syndrome [ICD-11 More detail]
- polyglutamine binding protein 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Renpenning syndrome [ORDO Disease]
- Renpenning syndrome [DO Concept]
- Renpenning syndrome [ICD-11 More detail]
- Renpenning syndrome (disorder) [SNOMED CT concept]
- Renpenning syndrome 1 [OMIM Phenotype]
MeSH term(s) associated for indexing
- X-Linked Intellectual Disability [MeSH Descriptor]
- cerebral palsy [MeSH Descriptor]
Record concept(s)
- Renpenning syndrome 1 [MeSH concept]
See also inter- (CISMeF)
- PQBP1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Renpenning Syndrome [NCIt concept]
- Renpenning syndrome [ORDO Disease]
- Renpenning syndrome [DO Concept]
- Renpenning syndrome (disorder) [SNOMED CT concept]
- Renpenning syndrome 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Renpenning Syndrome [NCIt concept]

Keyword's position in hierarchy(ies) :

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