Spina bifida

Symptom Information:

Symptom ID: HPO:0002414
Synonyms:
Spina bifida (disorder) [Orphanet:42150]
Spina Bifida [Orphanet:42150]
Spina bifida without mention of hydrocephalus, site unspecified [Orphanet:42150]
Spina bifida [OMIM:Spina bifida]
Spina bifida [Orphanet:42150]
Spina bifida, without mention of hydrocephalus, unspecified region [Orphanet:42150]
Spina bifida [MedDRA:10041524]
Hydrocele, spinal [MedDRA:10041524]
Open spina bifida [MedDRA:10041524]
Spina bifida with hydrocephalus [MedDRA:10041524]
Spina bifida with hydrocephalus, cervical region [MedDRA:10041524]
Spina bifida with hydrocephalus, dorsal (thoracic) region [MedDRA:10041524]
Spina bifida with hydrocephalus, lumbar region [MedDRA:10041524]
Spina bifida with hydrocephalus, unspecified region [MedDRA:10041524]
Spina bifida without mention of hydrocephalus [MedDRA:10041524]
Spina bifida, without mention of hydrocephalus, cervical region [MedDRA:10041524]
Spina bifida, without mention of hydrocephalus, dorsal (thoracic) region [MedDRA:10041524]
Spina bifida, without mention of hydrocephalus, lumbar region [MedDRA:10041524]
Spina bifida, without mention of hydrocephalus, unspecified region [MedDRA:10041524]
With hydrocephalus, spina bifida, cervical region [MedDRA:10041524]
With hydrocephalus, spina bifida, dorsal (thoracic) region [MedDRA:10041524]
With hydrocephalus, spina bifida, lumbar region [MedDRA:10041524]
With hydrocephalus, spina bifida, unspecified region [MedDRA:10041524]
Open spina bifida (myelomeningocele, 182940) [OMIM:Open spina bifida (myelomeningocele, 182940)]
Spina bifida (less common) [OMIM:Spina bifida (less common)]
Quality:
Cross references:
Orphanet:42150 "Spina bifida" [Orphanet:42150]
OMIM: "Spina bifida" [OMIM:Spina bifida]
OMIM: "Open spina bifida (myelomeningocele, 182940)" [OMIM:Open spina bifida (myelomeningocele, 182940)]
OMIM: "Spina bifida (less common)" [OMIM:Spina bifida (less common)]
UMLS:C0080178 "Spina Bifida" [Orphanet:42150]
UMLS:C0158534 "Spina bifida without mention of hydrocephalus, site unspecified" [Orphanet:42150]
Is a (Direct Parents):
HPO         Spinal dysraphism
MedDRA Congenital and hereditary central nervous system disorders NEC
Orphanet Spinal dysraphism
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 vertebral column(HPO:0000925)
                   Spinal dysraphism(HPO:0010301)
                      Spina bifida(HPO:0002414)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Congenital and peripartum neurological conditions(MedDRA:10010335)
       Congenital and hereditary central nervous system disorders NEC(MedDRA:10010332)
          Spina bifida(HPO:0002414)
Database Frequency: 47 / 7739
Resource:

All diseases associated with this symptom:

22q11.2 deletion syndrome (Orphanet:567)
Acalvaria (Orphanet:945)
Acropectorovertebral dysplasia (Orphanet:957)
Aicardi syndrome (Orphanet:50)
Amish lethal microcephaly (Orphanet:99742)
Anophthalmia plus syndrome (Orphanet:1104)
Arnold-Chiari malformation type II (Orphanet:1136)
Camptodactyly syndrome, Guadalajara type 1 (Orphanet:1327)
Caudal duplication (Orphanet:1756)
Cerebro-costo-mandibular syndrome (Orphanet:1393)
Cloacal exstrophy (Orphanet:93929)
Craniorachischisis (Orphanet:63260)
Diabetic embryopathy (Orphanet:1926)
Fanconi anemia (Orphanet:84)
Focal dermal hypoplasia (Orphanet:2092)
Fountain syndrome (Orphanet:3219)
Frontal encephalocele (Orphanet:1931)
Gorlin syndrome (Orphanet:377)
Hallermann-Streiff syndrome (Orphanet:2108)
Iniencephaly (Orphanet:63259)
Isolated Klippel-Feil syndrome (Orphanet:2345)
Isolated anencephaly/exencephaly (Orphanet:1048)
Isolated spina bifida (Orphanet:823)
Jacobsen syndrome (Orphanet:2308)
Lung agenesis - heart defect - thumb anomalies (Orphanet:1120)
Medeira-Dennis-Donnai syndrome (Orphanet:2476)
Mosaic trisomy 9 (Orphanet:99776)
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
NEURAL TUBE DEFECTS, X-LINKEDSPINA BIFIDA, X-LINKED, INCLUDED (OMIM:301410)
Nail-patella syndrome (Orphanet:2614)
Nephronophthisis 3 (OMIM:604387)
Neu-Laxova syndrome (Orphanet:2671)
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion (Orphanet:363700)
Nevus comedonicus syndrome (Orphanet:64754)
OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA (OMIM:311000)
PAGOD syndrome (Orphanet:991)
PELVIS syndrome (Orphanet:83628)
Schisis association (Orphanet:63862)
Sirenomelia (Orphanet:3169)
Spina bifida - hypospadias (Orphanet:3176)
Tel Hashomer camptodactyly syndrome (Orphanet:3292)
Thrombocytopenia - absent radius (Orphanet:3320)
Trisomy 18 (Orphanet:3380)
Trisomy 20p (Orphanet:261318)
VACTERL with hydrocephalus (Orphanet:3412)
VACTERL/VATER association (Orphanet:887)
Waardenburg syndrome type 1 (Orphanet:894)