Cephalocele

Symptom Information:

Symptom ID: HPO:0011815
Synonyms:
Encephalocele [Orphanet:42090]
Congenital cerebral hernia (disorder) [Orphanet:42090]
Encephalocele (disorder) [Orphanet:42090]
Congenital cerebral hernia [Orphanet:42090]
Encephalocele/exencephaly [Orphanet:42090]
Encephalocele [MedDRA:10014617]
Encephalomeningocele [MedDRA:10014617]
Encephalocystocele [MedDRA:10014617]
Encephalocele (1 patient) [OMIM:Encephalocele (1 patient)]
Encephalocele (rare) [OMIM:Encephalocele (rare)]
Encephalocele (single case) [OMIM:Encephalocele (single case)]
Encephalocele (uncommon) [OMIM:Encephalocele (uncommon)]
Exencephaly [MedDRA:10015633]
Exencephaly (disorder) [Orphanet:42090]
Exencephaly [Orphanet:42090]
Quality:
Cross references:
HPO:0002084 "Encephalocele" [Orphanet:42090]
Orphanet:42090 "Encephalocele/exencephaly" [Orphanet:42090]
OMIM: "Encephalocele (1 patient)" [OMIM:Encephalocele (1 patient)]
OMIM: "Encephalocele (rare)" [OMIM:Encephalocele (rare)]
OMIM: "Encephalocele (single case)" [OMIM:Encephalocele (single case)]
OMIM: "Encephalocele (uncommon)" [OMIM:Encephalocele (uncommon)]
UMLS:C0014065 "Congenital cerebral hernia" [Orphanet:42090]
UMLS:C0266453 "Exencephaly" [Orphanet:42090]
Is a (Direct Parents):
Orphanet Spinal dysraphism
MedDRA Congenital and hereditary central nervous system disorders NEC
Orphanet Agenesis of corpus callosum
HPO         Abnormality of the skull
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal axial skeleton morphology(HPO:0009121)
                Abnormality of the skull(HPO:0000929)
                   Cephalocele(HPO:0011815)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the skull(HPO:0000929)
                Cephalocele(HPO:0011815)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Congenital and peripartum neurological conditions(MedDRA:10010335)
       Congenital and hereditary central nervous system disorders NEC(MedDRA:10010332)
          Cephalocele(HPO:0011815)
Database Frequency: 5 / 7739
Resource:

All diseases associated with this symptom:

ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY (OMIM:601357)
Dyssegmental dysplasia, Rolland-Desbuquois type (Orphanet:156731)
Joubert syndrome 16 (OMIM:614465)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)