Hypogonadotropic hypogonadism retinitis pigmentosa syndrome

disorder

SNOMED 733113002CUI C2931722

Overview

Hypogonadotropic hypogonadism retinitis pigmentosa 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.

Isolated hypogonadotropic hypogonadism

Always present (100%)HP:0000044

Pigmentary retinal deposits

Always present (100%)HP:0000580

Retinitis pigmentosa

Always present (100%)HP:0000510

Absence of secondary sex characteristics

Very frequent (80-99%)HP:0008187

Anterior hypopituitarism

Very frequent (80-99%)HP:0000830

Decreased fertility

Very frequent (80-99%)HP:0000144

Delayed puberty

Very frequent (80-99%)HP:0000823

Hypoplastic ovary

Very frequent (80-99%)HP:0008724

Hypothalamic GNRH deficiency

Very frequent (80-99%)HP:0003164

Osteoporosis

Very frequent (80-99%)HP:0000939

Primary amenorrhea

Very frequent (80-99%)HP:0000786

Reduced circulating prolactin concentration

Very frequent (80-99%)HP:0008202

Retarded ossification

Very frequent (80-99%)HP:0002750

Secondary growth hormone deficiency

Very frequent (80-99%)HP:0008240

Underdeveloped breasts

Very frequent (80-99%)HP:0003187

Decreased body height

Frequent (30-79%)HP:0004322

Decreased bone mineral density Z score

Frequent (30-79%)HP:0004349

Increased fracture rate

Frequent (30-79%)HP:0002757

Obesity

Frequent (30-79%)HP:0001513

Tooth abnormalities

Frequent (30-79%)HP:0000164

Related Conditions

Retinitis pigmentosa(parent)

Hereditary disorder of endocrine system(parent)

Hereditary disorder of nervous system(parent)

Reproductive system hereditary disorder(parent)

Congenital hypogonadotropic hypogonadism(parent)

Quick Facts

SNOMED CT: 733113002
UMLS CUI: C2931722
Fully Specified Name: Hypogonadotropic hypogonadism retinitis pigmentosa syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 20

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.