Terminology Service for NFDI4Health
Aase-Smith syndrome
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http://purl.obolibrary.org/obo/MONDO_0007839
Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. [ ]
Term info
Label
Aase-Smith syndrome
Synonyms
- Aase-Smith I syndrome
- Aase-Smith syndrome
- Aase-Smith syndrome type 1
- hydrocephalus-cleft palate-joint contractures syndrome
Subsets
ordo_malformation_syndrome
closeMatch
http://identifiers.org/meddra/10063429
exactMatch
http://linkedlifedata.com/resource/umls/id/C0220686, http://identifiers.org/snomedct/718576001, http://purl.obolibrary.org/obo/Orphanet_916, https://omim.org/entry/147800, http://identifiers.org/mesh/C535332
has related synonym
Aase-Smith syndrome 1, Aase-Smith syndrome I, Joint contractures with Other abnormalities
id
MONDO:0007839
narrowMatch
https://icd.codes/icd10cm/Q87.8
Term relations
Subclass of:
- central nervous system malformation
- congenital nervous system disorder
- genetic nervous system disorder
- genetic otorhinolaryngologic disease
- genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
- orofacial clefting syndrome
- disease has major feature some central nervous system malformation