spondyloepimetaphyseal dysplasia, pakistani type

Preferred Label : spondyloepimetaphyseal dysplasia, pakistani type;

MeSH note : mutation in PAPSS2;

MeSH synonym : SEMD, pakistani type;

Details

Origin ID

C567551;

UMLS CUI

C2748515;

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
- growth disorders [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- spondyloepimetaphyseal dysplasia, pakistani type [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- 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]

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