{
  "id": 25900,
  "label": "dysraphism with stalk",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0958259",
  "properties": {
    "xrefs": [
      "GARD:0026989",
      "MEDGEN:1853160",
      "Orphanet:645193",
      "UMLS:C5816733"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare group of closed spinal dysraphisms characterized by the presence of a stalk connecting the skin to the underlying spinal cord. The stalk contains variable combinations of non-functional neural tissue, fibrous mesenchymal tissue, and dermal/epidermal elements."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 3158,
      "label": "spina bifida occulta",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        9741
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080073",
          "HP:0003298",
          "ICD10CM:Q76.0",
          "ICD9:756.17",
          "MEDGEN:36380",
          "MESH:D016136",
          "NCIT:C101044",
          "Orphanet:645202",
          "SCTID:76916001",
          "UMLS:C0080174",
          "icd11.foundation:449489594"
        ],
        "synonyms": [
          "closed spinal dysraphism",
          "spina bifida occulta",
          "spina bifida occulta (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic."
      },
      "child_count": 2,
      "reference_id": "MONDO:0000859"
    }
  ],
  "children": [
    {
      "id": 25941,
      "label": "spinal dermal sinus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25900
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027018",
          "Orphanet:645188"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare closed dysraphism with stalk characterized by a dorsal midline dermal sinus tract lined by keratinizing stratified squamous epithelium extending to the the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibers can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify a prophylactic surgery."
      },
      "child_count": 0,
      "reference_id": "MONDO:0958344"
    },
    {
      "id": 25942,
      "label": "limited dorsal myeloschisis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        25900
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027019",
          "MEDGEN:1853137",
          "Orphanet:645196",
          "UMLS:C5781237"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare dysraphic abnormality characterized by a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present."
      },
      "child_count": 2,
      "reference_id": "MONDO:0958345"
    },
    {
      "id": 25945,
      "label": "retained medullary cord",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        25900
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027022",
          "MEDGEN:1853139",
          "Orphanet:645334",
          "UMLS:C5816811"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare closed dysraphism with terminal stalk characterized by persistent rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). Differential diagnostic with intraoperative neurophysiological monitoring is mandatory as neuroimaging fails to distinguish it from functional conus."
      },
      "child_count": 0,
      "reference_id": "MONDO:0958348"
    }
  ],
  "roots": [
    {
      "id": 3158,
      "label": "spina bifida occulta"
    }
  ]
}