22q13 deletion

Preferred Label : 22q13 deletion;

ICD-11 definition : Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.;

ICD-11 synonym : Phelan-McDermid syndrome; 22q13 deletion syndrome;

Details

Origin ID

1667492731;

Automatic exact mappings (from CISMeF team)
- Phelan-McDermid syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- 22q13.3 deletion syndrome (disorder) [SNOMED CT concept]
- Monosomy 22q13.3 [ORDO Disease]
- Phelan-McDermid Syndrome [NCIt concept]
- Phelan-McDermid syndrome [DO Concept]
- Phelan-mcdermid syndrome [OMIM Phenotype]
- chromosome 22q13 deletion syndrome [Disease (Nov.)]
- del(22q13) [NCIt concept]
- telomeric 22q13 monosomy syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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