Spinal dysraphism

Symptom Information:

Symptom ID: HPO:0010301
Synonyms:
Incomplete closure of the vertebral arch [HPO:0010301]
Neural tube defect [HPO:0010301]
Neural tube defect (disorder) [Orphanet:42030]
Congenital failure of fusion (morphologic abnormality) [Orphanet:42030]
Spina bifida (disorder) [Orphanet:42030]
Neural Tube Defects [Orphanet:42030]
Spina Bifida [Orphanet:42030]
Neural tube defect [OMIM:Neural tube defect]
Spinal dysraphism [OMIM:Spinal dysraphism]
Neural tube defect [Orphanet:42030]
Spina bifida [Orphanet:42030]
Neural tube defect [MedDRA:10052046]
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]
Neural tube defect (in some patients) [OMIM:Neural tube defect (in some patients)]
Neural tube defects (4%) [OMIM:Neural tube defects (4%)]
Open spina bifida (myelomeningocele, 182940) [OMIM:Open spina bifida (myelomeningocele, 182940)]
Spina bifida (less common) [OMIM:Spina bifida (less common)]
Quality:
Cross references:
Orphanet:42030 "Neural tube defect" [Orphanet:42030]
OMIM: "Neural tube defect" [OMIM:Neural tube defect]
OMIM: "Spinal dysraphism" [OMIM:Spinal dysraphism]
OMIM: "Neural tube defect (in some patients)" [OMIM:Neural tube defect (in some patients)]
OMIM: "Neural tube defects (4%)" [OMIM:Neural tube defects (4%)]
OMIM: "Open spina bifida (myelomeningocele, 182940)" [OMIM:Open spina bifida (myelomeningocele, 182940)]
OMIM: "Spina bifida (less common)" [OMIM:Spina bifida (less common)]
UMLS:C0027794 "Neural Tube Defects" [Orphanet:42030]
UMLS:C0080178 "Spina Bifida" [Orphanet:42030]
Is a (Direct Parents):
HPO         Abnormality of the spinal cord
Orphanet Structural anomalies of the nervous system
HPO         Abnormality of the vertebral column
MedDRA Congenital and hereditary central nervous system disorders NEC
MedDRA Congenital and hereditary neurological disorders NEC
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)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Congenital and peripartum neurological conditions(MedDRA:10010335)
       Congenital and hereditary central nervous system disorders NEC(MedDRA:10010332)
          Spinal dysraphism(HPO:0010301)
       Congenital and hereditary neurological disorders NEC(MedDRA:10010333)
          Spinal dysraphism(HPO:0010301)
Database Frequency: 14 / 7739
Resource:

All diseases associated with this symptom:

Aminopterin/methotrexate embryofetopathy (Orphanet:1908)
Arnold-Chiari malformation type II (Orphanet:1136)
CLOVE syndrome (Orphanet:140944)
Cartilage-hair hypoplasia (Orphanet:175)
Circumscribed cutaneous aplasia of the vertex (Orphanet:1114)
Diabetic embryopathy (Orphanet:1926)
HOLOPROSENCEPHALY 5 (OMIM:609637)
Holoprosencephaly (Orphanet:2162)
Isolated anencephaly/exencephaly (Orphanet:1048)
NEURAL TUBE DEFECTS, FOLATE-SENSITIVE (OMIM:601634)
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Spina bifida - hypospadias (Orphanet:3176)
Spondyloepimetaphyseal dysplasia with multiple dislocations (Orphanet:93360)
Waardenburg syndrome type 1 (Orphanet:894)