Congenital Cranial Dysinnervation Disorders

Preferred Label : Congenital Cranial Dysinnervation Disorders;

MeSH definition : Congenital neurodevelopmental diseases characterized by abnormal eye, eyelid, and facial movements. Congenital cranial dysinnervation disorders (CCDDs) are caused by abnormal innervation of CRANIAL NERVES (e.g., CNs III, IV and VI) resulting in aplasia or hypoplasia of the ocular and facial musculature involved in EYE MOVEMENTS.;

MeSH synonym : Congenital Cranial Dysinnervation Syndromes; Congenital Innervation Dysgenesis Syndrome; Congenital Fibrosis Syndromes; Congenital Fibrosis Syndrome;

Details

Origin ID

D000093922;

UMLS CUI

C5671326;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Congenital cranial dysinnervation syndrome [ICD-11 Subcategory]
Record concept(s)
- Congenital Cranial Dysinnervation Disorders [MeSH concept]
Related MeSH Supplementary Concept(s)
- congenital fibrosis of the extraocular muscles [MeSH Supplementary Concept]
- external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation [MeSH Supplementary Concept]
- fibrosis of extraocular muscles, congenital, with synergistic divergence [MeSH Supplementary Concept]
- fourth cranial nerve palsy, familial congenital [MeSH Supplementary Concept]
- gaze palsy, familial horizontal, with progressive scoliosis [MeSH Supplementary Concept]
- marcus gunn phenomenon [MeSH Supplementary Concept]
- monocular elevation deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital cranial dysinnervation disorder [MedDRA Preferred Term]

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