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Congenital cataract with deafness and hypogonadism syndrome

disorder

SNOMED 722378009CUI C2931269

Overview

Congenital cataract with deafness and hypogonadism 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.

Congenital cataracts, bilateral

Frequent (30-79%)HP:0000519

Decreased activity of gonads

Frequent (30-79%)HP:0000135

Decreased body height

Frequent (30-79%)HP:0004322

Generalized hypertrichosis

Frequent (30-79%)HP:0004554

Mental retardation, mild

Frequent (30-79%)HP:0001256

Sensorineural deafness

Frequent (30-79%)HP:0000407

Related Conditions

Hypogonadism(parent)

Congenital cataract(parent)

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of endocrine system(parent)

Reproductive system hereditary disorder(parent)

Hereditary disorder of the visual system(parent)

Developmental hereditary disorder(parent)

Hearing loss associated with syndrome(parent)

Congenital sensorineural hearing loss(parent)

Genetic intellectual disability(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 722378009
UMLS CUI: C2931269
Fully Specified Name: Congenital cataract with deafness and hypogonadism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 6

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.