spondylodysplasia and premature pubarche

Preferred Label : spondylodysplasia and premature pubarche;

MeSH note : mutation in PAPSS2;

MeSH synonym : SEMD, Pakistani Type; Spondyloepimetaphyseal Dysplasia, Pakistani Type;

Details

Origin ID

C567552;

UMLS CUI

C2748516;

Currated CISMeF NLP mapping
- Brachyolmia type 4 with mild epiphyseal and metaphyseal changes [OMIM Phenotype]
- Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal dysplasia, PAPSS2 type [ORDO Disease]
- spondyloepimetaphyseal dysplasia, Pakistani type [DO Concept]
MeSH term(s) associated for indexing
- osteochondrodysplasias [MeSH Descriptor]
- puberty, precocious [MeSH Descriptor]
- spine [MeSH Descriptor]
Record concept(s)
- spondylodysplasia and premature pubarche [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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