Hypergonadotropic hypogonadism with cataract syndrome

disorder

SNOMED 721233005CUI C1855859

Overview

Hypergonadotropic hypogonadism with cataract 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.

Lens opacities

Always present (100%)HP:0000518

Primary hypogonadism

Always present (100%)HP:0000815

Absence of secondary sex characteristics

Very frequent (80-99%)HP:0008187

Decreased fertility

Very frequent (80-99%)HP:0000144

Delayed puberty

Very frequent (80-99%)HP:0000823

Gonadotropin excess

Very frequent (80-99%)HP:0000837

Osteoporosis

Very frequent (80-99%)HP:0000939

Primary amenorrhea

Very frequent (80-99%)HP:0000786

Retarded ossification

Very frequent (80-99%)HP:0002750

Secondary growth hormone deficiency

Very frequent (80-99%)HP:0008240

Decreased body height

Frequent (30-79%)HP:0004322

Decreased bone mineral density Z score

Frequent (30-79%)HP:0004349

Frequent fractures

Frequent (30-79%)HP:0002757

Decreased activity of gonads

HP:0000135

Decreased function of male gonad

HP:0000026

Elevated circulating follicle stimulating hormone level

HP:0008232

Infertility

HP:0000789

Related Conditions

Congenital cataract(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of endocrine system(parent)

Reproductive system hereditary disorder(parent)

Hereditary disorder of the visual system(parent)

Primary hypogonadism(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 721233005
UMLS CUI: C1855859
Fully Specified Name: Hypergonadotropic hypogonadism with cataract syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 17

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.