Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Hydrocephalus, X-linked
Synonyms	Hydrocephalus due to congenital stenosis of aqueduct of sylvius Aqueductal stenosis, X-linked HSAS1 Hydrocephalus due to congenital stenosis of aqueduct of sylvius 1
ID	http://purl.bioontology.org/ontology/MESH/C536078
altLabel	Hydrocephalus due to congenital stenosis of aqueduct of sylvius Aqueductal stenosis, X-linked HSAS1 Hydrocephalus due to congenital stenosis of aqueduct of sylvius 1
cui	C0265216
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000002
HM	D006849 D002535/Q000002 D040181
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D040181 http://purl.bioontology.org/ontology/MESH/D002535 http://purl.bioontology.org/ontology/MESH/D006849
MDA	20100825
MeSH Frequency	36
MMR	20190619
notation	C536078
prefLabel	Hydrocephalus, X-linked
SC	3
Scope Statement	The most common inherited (X-linked recessive) form of hydrocephalus. It is characterized by enlarged CEREBRAL VENTRICLES and INTELLECTUAL DISABILITY, and often includes SPASTIC PARAPARESIS and adducted thumbs. The most severe cases die pre- or perinatally with gross hydrocephalus and enlarged head circumference. Mutations in the L1CAM gene have been identified. OMIM: 307000
TERMUI	T738177 T000961253 T738174 T738175
TH	OMIM (2013) NLM (2019) ORD (2010)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNMI/D4-00605	SNMI	CUI
http://purl.bioontology.org/ontology/SCTSPA/71779008	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/236635	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/307000	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/71779008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/308840	OMIM	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536078	RH-MESH	LOOM