22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. [ Orphanet:567 ]
Synonyms: Shprintzen syndrome catch 22 conotruncal anomaly face syndrome monosomy 22q11 Sedlackova syndrome 22q11DS Cayler cardiofacial syndrome microdeletion 22q11.2 Takao syndrome
Term information
- Orphanet:567 (MONDO:equivalentTo)
- NANDO:1200688 (https://orcid.org/0000-0003-0011-764X)
- icd11.foundation:1868156761 (https://orcid.org/0000-0002-4142-7153)
- NANDO:1200339 (https://orcid.org/0000-0003-0011-764X)
- GARD:10299 (MONDO:GARD)
- NANDO:2200712 (https://orcid.org/0000-0003-0011-764X)
- MedDRA:10012979 (Orphanet:567/e)
- MedDRA:10066430 (Orphanet:567/e)
- DECIPHER:16 (MONDO:equivalentTo)
gard_rare, matrix_llm__is_cancer_other, ordo_disorder, matrix_llm__txgnn_other, mondo_top_grouping_member, harrisons_view_immune_system_disorder, matrix_included, nord_rare, matrix_txgnn_grouping_member, rare, mondo_top_grouping_immune_system_disorder, mondo_top_grouping_cardiovascular_disorder, orphanet_rare, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, harrisons_view_chromosomal_disorder, matrix_txgnn_grouping_cardiovascular_disorder, mondo_top_grouping_chromosomal_disorder, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_cardiovascular_disorder, ordo_malformation_syndrome, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, mondo_top_grouping_disorder_of_development_or_morphogenesis
http://www.orpha.net/ORDO/Orphanet_567
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1868156761
https://github.com/monarch-initiative/mondo/issues/3664
https://github.com/monarch-initiative/mondo/issues/6747