young simpson syndrome

Preferred Label : young simpson syndrome;

MeSH note : Sbbyss; Bmrs Sbbys not included;

MeSH synonym : mental retardation unusual facies hypothyroidism; Young-Simpson syndrome; Blepharophimosis-Intellectual deficit syndrome, Say-Barber-Biesecker-Young-Simpson type; ohdo syndrome, Say-Barber-Biesecker variant; ohdo syndrome, SBBYS variant; Say-Barber-Biesecker-Young-Simpson syndrome; Say-Barber-Biesecker-Young-Simpson variant of ohdo syndrome; SBBYS variant of ohdo syndrome; blepharophimosis and mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type; ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant;

Details

Origin ID

C536717;

UMLS CUI

C1863557;

Currated CISMeF NLP mapping
- Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder) [SNOMED CT concept]
- Blepharophimosis-intellectual disability syndrome, SBBYS type [ORDO Disease]
- Ohdo syndrome, sbbys variant [OMIM Phenotype]
- Young-Simpson syndrome [ICD-11 More detail]
- blepharophimosis-intellectual disability syndrome, SBBYS type [DO Concept]
DO Cross reference
- blepharophimosis-intellectual disability syndrome, SBBYS type [DO Concept]
MeSH term(s) associated for indexing
- blepharophimosis [MeSH Descriptor]
- congenital hypothyroidism [MeSH Descriptor]
- facies [MeSH Descriptor]
- heart defects, congenital [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- joint instability [MeSH Descriptor]
Record concept(s)
- Young Simpson syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder) [SNOMED CT concept]
- Blepharophimosis-intellectual disability syndrome, SBBYS type [ORDO Disease]
- Ohdo syndrome, sbbys variant [OMIM Phenotype]
- Young-Simpson syndrome [MedDRA Preferred Term]
- blepharophimosis-intellectual disability syndrome, SBBYS type [DO Concept]

Keyword's position in hierarchy(ies) :

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