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