Terminology Service for NFDI4Health
Ritscher-Schinzel syndrome
Go to external page
http://purl.obolibrary.org/obo/MONDO_0019078
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. [ ]
Term info
Label
Ritscher-Schinzel syndrome
Synonyms
- 3C syndrome
- CCC dysplasia
- Craniocerebellocardiac dysplasia
- Ritscher-Schinzel syndrome
- craniocerebellocardiac dysplasia
Subsets
gard_rare, ordo_malformation_syndrome
exactMatch
http://purl.obolibrary.org/obo/DOID_0060565, http://identifiers.org/mesh/C535313, http://linkedlifedata.com/resource/umls/id/C0796137, https://omim.org/phenotypicSeries/PS220210, http://purl.obolibrary.org/obo/Orphanet_7, http://identifiers.org/snomedct/718556007
has related synonym
Dandy-Walker-like malformation with ASD, Dandy-Walker like malformation with atrioventricular septal defect, cranio-cerebello-cardiac dysplasia, Ritscher-Schinzel cranio-cerebello-cardiac syndrome, Ritscher Schinzel syndrome, Dandy-Walker-like malformation with atrioventricular septal defect
id
MONDO:0019078
narrowMatch
https://icd.codes/icd10cm/Q87.8
see also
https://rarediseases.info.nih.gov/diseases/5666/dandy-walker-like-malformation-with-atrioventricular-septal-defect
Term relations
Subclass of:
- syndromic intellectual disability
- central nervous system malformation
- genetic multiple congenital anomalies/dysmorphic syndrome
- congenital nervous system disorder
- genetic nervous system disorder
- multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- disease has major feature some central nervous system malformation
- disease has feature some Dandy-Walker syndrome