Choroideremia with deafness and obesity syndrome

disorder

SNOMED 717761005CUI C1844836

Overview

Choroideremia with deafness and obesity 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.

Abnormal chorioretinal morphology

Very frequent (80-99%)HP:0000532

Chorioretinal atrophy

Very frequent (80-99%)HP:0000533

Choroideremia

Very frequent (80-99%)HP:0001139

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Abnormal cochlea morphology

Frequent (30-79%)HP:0000375

Abnormality of the calcaneal tendon

Frequent (30-79%)HP:0005109

Ankle clonus

Frequent (30-79%)HP:0011448

Anterior hypopituitarism

Frequent (30-79%)HP:0000830

Ataxia

Frequent (30-79%)HP:0001251

Bilateral nerve deafness

Frequent (30-79%)HP:0008619

Cognitive delay

Frequent (30-79%)HP:0001263

Decreased response to growth hormone stimulation test

Frequent (30-79%)HP:0000824

Decreased visual acuity

Frequent (30-79%)HP:0007663

Enlarged internal auditory canal

Frequent (30-79%)HP:0004458

Fishnet retinal pigmentation

Frequent (30-79%)HP:0007937

Growth delay as children

Frequent (30-79%)HP:0008897

Hearing loss, conductive

Frequent (30-79%)HP:0000405

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Increased reflexes

Frequent (30-79%)HP:0001347

Kalnienk vision

Frequent (30-79%)HP:0007994

Mental retardation, mild

Frequent (30-79%)HP:0001256

Obesity

Frequent (30-79%)HP:0001513

Optic atrophy

Frequent (30-79%)HP:0000648

Poor growth

Frequent (30-79%)HP:0001510

Progressive night blindness

Frequent (30-79%)HP:0007675

Retarded ossification

Frequent (30-79%)HP:0002750

Stapes ankylosis

Frequent (30-79%)HP:0000381

TSH deficient hypothyroidism

Frequent (30-79%)HP:0008245

Visual acuity test abnormality

Frequent (30-79%)HP:0030532

Dysdiadochokinesis

Occasional (5-29%)HP:0002075

Related Conditions

Hearing loss associated with syndrome(parent)

Choroideremia(parent)

Anomaly of chromosome X(parent)

Developmental hereditary disorder(parent)

Multiple system malformation syndrome(parent)

Congenital mixed conductive and sensorineural hearing loss(parent)

X-linked sensorineural hearing loss(parent)

Genetic obesity disorder(parent)

Quick Facts

SNOMED CT: 717761005
UMLS CUI: C1844836
Fully Specified Name: Choroideremia with deafness and obesity syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.