Terminology Service for NFDI4Health
chromosome 18q deletion syndrome
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http://purl.obolibrary.org/obo/MONDO_0011147
A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts. [ ]
Term info
Label
chromosome 18q deletion syndrome
Synonyms
- 18Q syndrome
- 18q deletion syndrome
- 18q-syndrome
- chromosome 18q deletion syndrome
- deletion 18q
- deletion 18q syndrome
- monosomy 18q
- monosomy type 18q
- partial deletion of chromosome 18q
- partial deletion of the long arm of chromosome 18
- partial deletion of the long arm of chromosome type 18
- partial monosomy of chromosome 18q
- partial monosomy of the long arm of chromosome 18
Subsets
gard_rare, disease_grouping, ordo_malformation_syndrome
exactMatch
http://linkedlifedata.com/resource/umls/id/C0432443, http://identifiers.org/mesh/C536580, http://purl.obolibrary.org/obo/Orphanet_262146, http://purl.obolibrary.org/obo/Orphanet_1600, http://purl.obolibrary.org/obo/NCIT_C84522, http://purl.obolibrary.org/obo/DOID_0060407, http://identifiers.org/snomedct/270889005, https://omim.org/entry/601808
excluded subClassOf
http://purl.obolibrary.org/obo/MONDO_0015501, http://purl.obolibrary.org/obo/MONDO_0020226
has narrow synonym
proximal 18q-, proximal 18q deletion, proximal chromosome 18q deletion syndrome, proximal 18q deletion syndrome
has related synonym
chromosome 18Q- syndrome, monosomy 18q syndrome, 18Q- syndrome, chromosome 18q deletion
id
MONDO:0011147
narrowMatch
https://icd.codes/icd10cm/Q93.5
see also
https://github.com/monarch-initiative/mondo/issues/3664