Pontine tegmental cap dysplasia

Preferred Label : Pontine tegmental cap dysplasia;

Symbol : PTCD;

CISMeF acronym : PTCD;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Pontine tegmental cap dysplasia (PTCD) refers to a neurologic condition characterized by a distinct pattern of hindbrain malformations apparent on brain imaging. The abnormalities affect the pons, medulla, and cerebellum. In neuroradiologic studies, the ventral side of the pons is flattened, whereas there is vaulting ('capping') of the dorsal pontine border into the fourth ventricle. Affected individuals show a variety of neurologic deficits, most commonly sensorineural deafness, impaired cranial nerve function, and variable psychomotor retardation (summary by Barth et al., 2007).;

Inheritance : Isolated cases;

Prefixed ID : 614688;

Details

Origin ID

614688;

UMLS CUI

C3541340;

Automatic exact mappings (from CISMeF team)
- MedDRA Preferred Term Code [NCIt concept]
- Percutaneous Transhepatic Biliary Drainage [NCIt concept]
Currated CISMeF NLP mapping
- Pontine tegmental cap dysplasia [ORDO Disease]
- Pontine tegmental cap dysplasia (disorder) [SNOMED CT concept]
False automatic mappings
- PTCD [MedDRA LLT]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Absent speech [HPO term]
- Ankle clonus [HPO term]
- Aspiration [HPO term]
- Ataxia [HPO term]
- Decreased corneal sensation [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Facial palsy [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Head titubation [HPO term]
- Hemivertebrae [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Impaired mastication [HPO term]
- Intellectual disability [HPO term]
- Nystagmus [HPO term]
- Oculomotor apraxia [HPO term]
- Pontine tegmental cap [HPO term]
- Ptosis [HPO term]
- Rib fusion [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sporadic [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Pontine tegmental cap dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pontine tegmental cap dysplasia [ORDO Disease]
- Pontine tegmental cap dysplasia (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients