Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome

disorder

SNOMED 724001005CUI C4518330

Overview

Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism 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.

Acanthosis nigricans

Very frequent (80-99%)HP:0000956

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased testicular size

Very frequent (80-99%)HP:0008734

Gynaecomastia

Very frequent (80-99%)HP:0000771

Hyperinsulinemia

Very frequent (80-99%)HP:0000842

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Mental deficiency

Very frequent (80-99%)HP:0001249

NIDDM

Very frequent (80-99%)HP:0005978

Primary hypogonadism

Very frequent (80-99%)HP:0000815

Retinal pigmentary anomaly

Very frequent (80-99%)HP:0007703

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Brachydactyly

Frequent (30-79%)HP:0001156

Broad foot

Frequent (30-79%)HP:0001769

Coarse face

Frequent (30-79%)HP:0000280

Cryptorchidism

Frequent (30-79%)HP:0000028

Delayed skeletal development

Frequent (30-79%)HP:0002750

Dry skin

Frequent (30-79%)HP:0000958

Keloids

Frequent (30-79%)HP:0010562

Lens opacities

Frequent (30-79%)HP:0000518

Obesity

Frequent (30-79%)HP:0001513

Poor vision

Frequent (30-79%)HP:0000505

Previous menstrual periods stop

Frequent (30-79%)HP:0000869

Short toes

Frequent (30-79%)HP:0001831

Hunched back

Occasional (5-29%)HP:0002808

Infratentorial atrophy

Occasional (5-29%)HP:0001272

Polycystic ovary disease

Occasional (5-29%)HP:0000147

Prominent swayback

Occasional (5-29%)HP:0003307

Related Conditions

Hypogonadism(parent)

Autosomal recessive retinitis pigmentosa(parent)

Hearing loss associated with syndrome(parent)

Hereditary disorder of endocrine system(parent)

Reproductive system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 724001005
UMLS CUI: C4518330
Fully Specified Name: Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.