Vitreoretinopathy, neovascular inflammatory

Preferred Label : Vitreoretinopathy, neovascular inflammatory;

Symbol : VRNI;

CISMeF acronym : VRNI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Vitreoretinopathy, neovascular inflammatory, autosomal dominant; Proliferative vitreoretinopathy; PVR; ADNIV;

Description : Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a blinding disorder that shares some clinical features with retinitis pigmentosa (see 268000), uveitis, and proliferative diabetic retinopathy (see 603933). Features include prominent ocular inflammation; vascular dropout, large spots of hyperpigmentation, and neovascularization of the peripheral and posterior retina; vitreous hemorrhage; and retinal detachment (summary by Sheffield et al., 1992).;

Inheritance : Autosomal dominant (11q13);

Prefixed ID : #193235;

Details

Origin ID

193235;

UMLS CUI

C0242852;

Automatic exact mappings (from CISMeF team)
- Other non-diabetic proliferative retinopathy [ICD-10 Sub-category]
- PVR Gene [NCIt concept]
- Pulmonary Vascular Resistance [NCIt concept]
- calpain 5 [ORDO Gene]
- symbol withdrawn VRNI [HGNC gene]
- vascular resistance [MeSH Descriptor]
Currated CISMeF NLP mapping
- Autosomal dominant neovascular inflammatory vitreoretinopathy [ORDO Disease]
- Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) [SNOMED CT concept]
- Proliferative vitreoretinopathy [PASCAL descriptor]
- Proliferative vitreoretinopathy [MedDRA LLT]
- Proliferative vitreoretinopathy (disorder) [SNOMED CT concept]
- neovascular inflammatory vitreoretinopathy [DO Concept]
- proliferative vitreoretinopathy [Disease (Nov.)]
- vitreoretinopathy, proliferative [MeSH Descriptor]
- vitreoretinopathy, proliferative [MeSH concept]
DO Cross reference
- neovascular inflammatory vitreoretinopathy [DO Concept]
Genes related to phenotype
- Calpain 5 [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blindness [HPO term]
- Large hyperpigmented retinal spots [HPO term]
- Peripheral retinal neovascularization [HPO term]
- Posterior retinal neovascularization [HPO term]
- Prominent ocular inflammation [HPO term]
- Retinal detachment [HPO term]
- Uveitis [HPO term]
- Vitreoretinopathy [HPO term]
- Vitreous hemorrhage [HPO term]
ORDO concept(s)
- Autosomal dominant neovascular inflammatory vitreoretinopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant neovascular inflammatory vitreoretinopathy [ORDO Disease]
- Proliferative vitreoretinopathy [MedDRA LLT]
- Proliferative vitreoretinopathy [PASCAL descriptor]
- Proliferative vitreoretinopathy (disorder) [SNOMED CT concept]
- Retinitis proliferans [MedDRA LLT]
- neovascular inflammatory vitreoretinopathy [DO Concept]
- proliferative vitreoretinopathy [Disease (Nov.)]
- vitreoretinopathy, proliferative [MeSH Descriptor]
- vitreoretinopathy, proliferative [MeSH concept]

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