Encephalocele

Symptom Information:

Symptom ID: HPO:0002084
Synonyms:
Bifid skull [HPO:0002084]
Cranium bifidum [HPO:0002084]
Cranium bifidum [Orphanet:2960]
Cranioschisis (disorder) [Orphanet:2960]
Congenital cerebral hernia (disorder) [Orphanet:42090]
Encephalocele (disorder) [Orphanet:42090]
Cranioschisis [Orphanet:2960]
Congenital cerebral hernia [Orphanet:42090]
Cranium bifidum [OMIM:Cranium bifidum]
Encephalocele [OMIM:Encephalocele]
Bifid skull [Orphanet:2960]
Encephalocele/exencephaly [Orphanet:42090]
Encephalocele [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:0002697 "Parietal foramina" [Orphanet:2960]
HPO:0011815 "Cephalocele" [Orphanet:42090]
Orphanet:2960 "Bifid skull" [Orphanet:2960]
Orphanet:42090 "Encephalocele/exencephaly" [Orphanet:42090]
OMIM: "Cranium bifidum" [OMIM:Cranium bifidum]
OMIM: "Encephalocele" [OMIM:Encephalocele]
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 "Encephalocele" [HPO:0002084]
UMLS:C0265541 "Cranioschisis" [Orphanet:2960]
UMLS:C0014065 "Congenital cerebral hernia" [Orphanet:42090]
UMLS:C0266453 "Exencephaly" [Orphanet:42090]
Is a (Direct Parents):
MedDRA Congenital and hereditary central nervous system disorders NEC
HPO         Cephalocele
Orphanet Agenesis of corpus callosum
Orphanet Spinal dysraphism
Orphanet 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)
                      Encephalocele(HPO:0002084)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the skull(HPO:0000929)
                Cephalocele(HPO:0011815)
                   Encephalocele(HPO:0002084)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Congenital and peripartum neurological conditions(MedDRA:10010335)
       Congenital and hereditary central nervous system disorders NEC(MedDRA:10010332)
          Encephalocele(HPO:0002084)
Database Frequency: 70 / 7739
Resource:

All diseases associated with this symptom:

ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
Acro-pectoro-renal dysplasia (Orphanet:956)
Acromelic frontonasal dysplasia (Orphanet:1827)
Adams-Oliver syndrome (Orphanet:974)
Aminopterin/methotrexate embryofetopathy (Orphanet:1908)
Atelosteogenesis type I (Orphanet:1190)
BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY (OMIM:601357)
Cantrell pentalogy (Orphanet:1335)
Cerebro-oculo-nasal syndrome (Orphanet:66625)
Cocaine embryofetopathy (Orphanet:1911)
Constriction rings syndrome (Orphanet:295000)
Craniomicromelic syndrome (Orphanet:1524)
Craniotelencephalic dysplasia (Orphanet:1528)
Diabetic embryopathy (Orphanet:1926)
Distal 7q11.23 microduplication syndrome (Orphanet:261102)
Distal monosomy 13q (Orphanet:1590)
Dyssegmental dysplasia, Rolland-Desbuquois type (Orphanet:156731)
Embryonary disorganization syndrome (Orphanet:1664)
FRONTOFACIONASAL DYSPLASIA (OMIM:229400)
Fraser syndrome (Orphanet:2052)
Frontal encephalocele (Orphanet:1931)
Fronto-facio-nasal dysostosis (Orphanet:1791)
Frontonasal dysplasia (Orphanet:250)
Frontonasal dysplasia with alopecia and genital anomaly (Orphanet:228390)
Griscelli disease (Orphanet:381)
Hartsfield-Bixler-Demyer syndrome (Orphanet:2117)
Holoprosencephaly (Orphanet:2162)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Hurler syndrome (Orphanet:93473)
Hypertelorism - hypospadias - polysyndactyly syndrome (Orphanet:2211)
Iniencephaly (Orphanet:63259)
Isolated Dandy-Walker malformation (Orphanet:217)
Isolated spina bifida (Orphanet:823)
Joubert syndrome (Orphanet:475)
Joubert syndrome 14 (OMIM:614424)
Joubert syndrome 16 (OMIM:614465)
Joubert syndrome 2 (OMIM:608091)
Joubert syndrome 7 (OMIM:611560)
Joubert syndrome with hepatic defect (Orphanet:1454)
Joubert syndrome with ocular defect (Orphanet:220493)
Joubert syndrome with oculorenal defect (Orphanet:2318)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
Joubert syndrome with renal defect (Orphanet:220497)
Knobloch syndrome (Orphanet:1571)
Leber congenital amaurosis (Orphanet:65)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 (OMIM:613150)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 (OMIM:614643)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 2 (OMIM:603194)
Meckel syndrome, type 3 (OMIM:607361)
Meckel syndrome, type 4 (OMIM:611134)
Meckel syndrome, type 8 (OMIM:613885)
Otopalatodigital syndrome type 2 (Orphanet:90652)
PAGOD syndrome (Orphanet:991)
PARIETAL FORAMINA (OMIM:168500)
PARIETAL FORAMINA 2 (OMIM:609597)
PARIETAL FORAMINA 3 (OMIM:609566)
Pai syndrome (Orphanet:1993)
Parietal foramina (Orphanet:60015)
Pseudoprogeria syndrome (Orphanet:2985)
Scalp defects - postaxial polydactyly (Orphanet:1003)
Schisis association (Orphanet:63862)
Terminal transverse defects of arm (Orphanet:93937)
Thanatophoric dysplasia type 2 (Orphanet:93274)
Treacher-Collins syndrome (Orphanet:861)
Triopia (Orphanet:3374)
VACTERL/VATER association (Orphanet:887)
Von Voss-Cherstvoy syndrome (Orphanet:3439)
Walker-Warburg syndrome (Orphanet:899)