Terminology Service for NFDI4Health

Meckel syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0018921


A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. [ https://orcid.org/0000-0001-5208-3432 ]

Term info

Label

Meckel syndrome

Synonyms
  • Meckel-Gruber syndrome
database cross reference
Subsets

ordo_malformation_syndrome

exactMatch

http://identifiers.org/snomedct/29076005, http://purl.obolibrary.org/obo/DOID_0050778, https://omim.org/phenotypicSeries/PS249000, http://linkedlifedata.com/resource/umls/id/C0265215, http://purl.obolibrary.org/obo/Orphanet_564, http://purl.obolibrary.org/obo/NCIT_C98978

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005328, http://purl.obolibrary.org/obo/MONDO_0015335, http://purl.obolibrary.org/obo/MONDO_0015214, http://purl.obolibrary.org/obo/MONDO_0020229, http://purl.obolibrary.org/obo/MONDO_0020237, http://purl.obolibrary.org/obo/MONDO_0019741, http://purl.obolibrary.org/obo/MONDO_0018731, http://purl.obolibrary.org/obo/MONDO_0019721, http://purl.obolibrary.org/obo/MONDO_0015220

id

MONDO:0018921

narrowMatch

https://icd.codes/icd10cm/Q61.9