pena shokeir syndrome, type 1

Preferred Label : pena shokeir syndrome, type 1;

MeSH synonym : lethal Pena-Shokeir 1 syndrome; fetal akinesia sequence; arthrogryposis multiplex congenita with pulmonary hypoplasia; fetal akinesia deformation sequence; Pena-Shokeir syndrome, type I; arthrogryposis multiplex congenita pulmonary hypoplasia; arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings;

Details

Origin ID

C536647;

UMLS CUI

C1276035;

Automatic exact mappings (from CISMeF team)
- Fetal akinesia deformation sequence [OMIM phenotypic series]
- fetal akinesia deformation sequence syndrome [DO Concept]
Currated CISMeF NLP mapping
- Fetal Akinesia Deformation Sequence [NCIt concept]
- Fetal akinesia deformation sequence [ORDO Disease]
- Fetal akinesia deformation sequence 1 [OMIM Phenotype]
- Fetal akinesia sequence [HPO term]
- Pena-Shokeir syndrome type I (disorder) [SNOMED CT concept]
- fetal akinesia deformation sequence [Disease (Nov.)]
- fetal akinesia deformation sequence syndrome 1 [DO Concept]
- fetal akinesia sequence [ICD-11 More detail]
DO Cross reference
- fetal akinesia deformation sequence syndrome [DO Concept]
HPO term
- Fetal akinesia sequence [HPO term]
MeSH term(s) associated for indexing
- arthrogryposis [MeSH Descriptor]
Record concept(s)
- Pena Shokeir syndrome, type 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fetal Akinesia Deformation Sequence [NCIt concept]
- Fetal akinesia deformation sequence [ORDO Disease]
- Fetal akinesia deformation sequence 1 [OMIM Phenotype]
- Fetal akinesia sequence [HPO term]
- Pena-Shokeir syndrome type I (disorder) [SNOMED CT concept]
- fetal akinesia deformation sequence syndrome [DO Concept]
Validated automatic mappings to NTBT
- Pena-Shokeir Syndrome [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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