Aniridia, renal agenesis, psychomotor retardation syndrome

disorder

SNOMED 733116005CUI C4518585

Overview

Aniridia, renal agenesis, psychomotor retardation syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Aniridia

Very frequent (80-99%)HP:0000526

Craniosyostosis

Very frequent (80-99%)HP:0001363

Decreased body height

Very frequent (80-99%)HP:0004322

Depressed nasal root/bridge

Very frequent (80-99%)HP:0005280

Downturned corners of mouth

Very frequent (80-99%)HP:0002714

Frontal protuberance

Very frequent (80-99%)HP:0002007

Increased intercanthal distance

Very frequent (80-99%)HP:0000506

Infantile glaucoma

Very frequent (80-99%)HP:0001087

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Psychomotor retardation, mild

Very frequent (80-99%)HP:0011342

Single kidney

Very frequent (80-99%)HP:0000122

Squint

Very frequent (80-99%)HP:0000486

Communicating hydrocephalus

Frequent (30-79%)HP:0001334

Hypoplastic mandible condyle

Frequent (30-79%)HP:0000347

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Scarring or clouding of the cornea of the eye

Frequent (30-79%)HP:0007957

Related Conditions

Aniridia(parent)

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital glaucoma(parent)

Renal agenesis(parent)

Hereditary disorder of the visual system(parent)

Hereditary nephropathy(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 733116005
UMLS CUI: C4518585
Fully Specified Name: Aniridia, renal agenesis, psychomotor retardation syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.