Syringomyelia

Symptom Information:

Symptom ID: HPO:0003396
Synonyms:
Syringomyelia and syringobulbia (disorder) [Orphanet:42270]
Syringomyelia [Orphanet:42270]
Syringomyelia and syringobulbia [Orphanet:42270]
Syringomyelia [OMIM:Syringomyelia]
Syringomelia [Orphanet:42270]
Syringomyelia [MedDRA:10042928]
Syringobulbia [MedDRA:10042928]
Syringomyelia and syringobulbia [MedDRA:10042928]
Central cord syndrome [MedDRA:10042928]
Syrinx [MedDRA:10042928]
Quality:
Cross references:
Orphanet:42270 "Syringomelia" [Orphanet:42270]
OMIM: "Syringomyelia" [OMIM:Syringomyelia]
UMLS:C0039144 "Syringomyelia" [HPO:0003396]
UMLS:C0039144 "Syringomyelia" [Orphanet:42270]
UMLS:C0039145 "Syringomyelia and syringobulbia" [Orphanet:42270]
Is a (Direct Parents):
Orphanet Structural anomalies of the nervous system
MedDRA Central nervous system disorders congenital NEC
HPO         Spinal cord lesion
Is a (Whole tree): HPO:
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Neurological disorders congenital(MedDRA:10029299)
       Central nervous system disorders congenital NEC(MedDRA:10009713)
          Syringomyelia(HPO:0003396)
Database Frequency: 16 / 7739
Resource:

All diseases associated with this symptom:

12q14 microdeletion syndrome (Orphanet:94063)
Acroosteolysis, dominant type (Orphanet:955)
Arnold-Chiari malformation type I (Orphanet:268882)
Beckwith-Wiedemann syndrome due to CDKN1C mutation (Orphanet:231120)
CHROMOSOME 1p32-p31 DELETION SYNDROME (OMIM:613735)
CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Cleidocranial dysplasia (Orphanet:1452)
Costello syndrome (Orphanet:3071)
Isolated spina bifida (Orphanet:823)
Lateral meningocele syndrome (Orphanet:2789)
Neurocutaneous melanocytosis (Orphanet:2481)
Primary basilar impression (Orphanet:2285)
Proximal 16p11.2 microdeletion syndrome (Orphanet:261197)
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification (Orphanet:93358)
Syndactyly - telecanthus - anogenital and renal malformations (Orphanet:140952)
Syringomyelia (Orphanet:3280)