loading...| Preferred Name | Chiari malformation type II | |
| Synonyms |
Chiari type II malformation Arnold Chiari malformation type II Arnold-Chiari malformation Cm2 Arnold-Chiari malformation type II Chiari malformation type 2 Arnold-Chiari malformation type 2 Chiari malformation type II |
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| Definitions |
Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008816 |
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| database_cross_reference |
SCTID:373587001 Orphanet:1136 OMIM:207950 MEDGEN:108222 UMLS:C0555206 MedDRA:10056945 GARD:9232 |
|
| definition |
Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache. |
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| has_exact_synonym |
Arnold-Chiari malformation type II Chiari malformation type 2 Arnold-Chiari malformation type 2 Chiari malformation type II |
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| has_related_synonym |
Chiari type II malformation Arnold Chiari malformation type II Arnold-Chiari malformation Cm2 |
|
| id |
MONDO:0008816 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_morphological_anomaly http://purl.obolibrary.org/obo/mondo/mondo-base#otar |
|
| label |
Chiari malformation type II |
|
| notation |
MONDO:0008816 |
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| preferred label |
Chiari malformation type II |
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| prefLabel |
Chiari malformation type II |
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| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/medgen/108222 |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100545 |