Pena-Shokeir Syndrome

Preferred Label : Pena-Shokeir Syndrome;

NCIt related terms : Pena-Shokeir Phenotype;

NCIt definition : An autosomal recessive inherited disorder. It is characterized by arthrogryposis, facial anomalies, polyhydramnios, camptodactyly, intrauterine growth retardation, and pulmonary hypoplasia. Pulmonary hypoplasia is present in the vast majority of cases and is often the fatal component of this syndrome.;

Details

Origin ID

C99008;

UMLS CUI

C0265228;

Currated CISMeF NLP mapping
- Pena-Shokeir phenotype (disorder) [SNOMED CT concept]
- pena-shokeir phenotype [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pena-Shokeir phenotype (disorder) [SNOMED CT concept]
- pena-shokeir phenotype [SNOMED Notion]
Validated automatic mappings to BTNT
- Fetal akinesia deformation sequence [ORDO Disease]
- Fetal akinesia deformation sequence 1 [OMIM Phenotype]
- Fetal akinesia sequence [HPO term]
- Pena Shokeir syndrome, type 1 [MeSH concept]
- Pena-Shokeir syndrome type I (disorder) [SNOMED CT concept]
- fetal akinesia deformation sequence [Disease (Nov.)]
- fetal akinesia sequence [ICD-11 More detail]
- pena shokeir syndrome, type 1 [MeSH Supplementary Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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