Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism. [ Orphanet : 281 ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0010314 (Orphanet:281/e)
  • ICD9:758.39 (MONDO:relatedTo)
  • SCTID:70173007 (MONDO:equivalentTo)
  • NCIT:C34518 (MONDO:equivalentTo)
  • ICD9:758.31 (MONDO:i2s)
  • UMLS:CN776901 (MONDO:equivalentTo)
  • GARD:0006213 (MONDO:equivalentTo)
  • ICD10CM:Q93.4 (Orphanet:281/ntbt)
  • Orphanet:281 (OMIM:123450)
  • MedDRA:10011385 (Orphanet:281/e)
  • DOID:12580 (MONDO:equivalentTo)
  • MESH:D003410 (Orphanet:281/e)
  • OMIM:123450 (Orphanet:281/e)
Subsets

ordo_malformation_syndrome

closeMatch
  • http://identifiers.org/meddra/10011385
definition
  • Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.
exactMatch
  • http://linkedlifedata.com/resource/umls/id/C0010314
  • http://www.orpha.net/ORDO/Orphanet_281
  • http://purl.obolibrary.org/obo/DOID_12580
  • https://omim.org/entry/123450
  • http://identifiers.org/snomedct/70173007
  • http://linkedlifedata.com/resource/umls/id/CN776901
  • http://purl.obolibrary.org/obo/NCIT_C34518
  • http://identifiers.org/mesh/D003410
excluded subClassOf
  • http://purl.obolibrary.org/obo/MONDO_0020226
excluded from qc check
  • http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
has exact synonym
  • Cri du chat syndrome
  • monosomy type 5p
  • deletion 5p
  • 5p partial monosomy syndrome
  • Cri-du-chat syndrome
  • chromosome 5p deletion syndrome
  • chromosome 5 short arm deletion syndrome
  • 5p deletion syndrome
  • Cat-Cry syndrome
has related synonym
  • 5p minus syndrome
  • monosomy 5p
  • Cat Cry syndrome
  • chromosome 5p- syndrome
  • chromosome 5P deletion syndrome
  • 5p- syndrome
id
  • MONDO:0007404
narrowMatch
  • http://apps.who.int/classifications/icd10/browse/2010/en#/Q93.4