Primary hypergonadotropic hypogonadism and partial alopecia syndrome

disorder

SNOMED 719275009CUI C2931374

Overview

Primary hypergonadotropic hypogonadism and partial alopecia 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.

Missing scalp hair

Always present (100%)HP:0002293

Primary gonadal insufficiency

Always present (100%)HP:0008193

Primary hypogonadism

Always present (100%)HP:0000815

Abnormality of the eyebrow

Very frequent (80-99%)HP:0000534

Absence of secondary sex characteristics

Very frequent (80-99%)HP:0008187

Absent gonadal tissue

Very frequent (80-99%)HP:0008633

Absent/underdeveloped uterus

Very frequent (80-99%)HP:0008684

Aplasia of the ovary

Very frequent (80-99%)HP:0010463

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased serum estradiol

Very frequent (80-99%)HP:0008214

Decreased serum testosterone level

Very frequent (80-99%)HP:0040171

Decreased volume of upper lip

Very frequent (80-99%)HP:0000219

Delayed puberty

Very frequent (80-99%)HP:0000823

Difficulty getting an erection

Very frequent (80-99%)HP:0000802

Gonadotropin excess

Very frequent (80-99%)HP:0000837

Hair loss

Very frequent (80-99%)HP:0001596

Infertility

Very frequent (80-99%)HP:0000789

Marked delay in bone age

Very frequent (80-99%)HP:0003799

Osteopenia

Very frequent (80-99%)HP:0000938

Osteoporosis

Very frequent (80-99%)HP:0000939

Poor growth

Very frequent (80-99%)HP:0001510

Posterior flattening of the skull

Very frequent (80-99%)HP:0005469

Primary amenorrhea

Very frequent (80-99%)HP:0000786

Sparse facial hair

Very frequent (80-99%)HP:0007464

Streak ovary

Very frequent (80-99%)HP:0010464

Testicular azoospermia

Very frequent (80-99%)HP:0011961

Underdeveloped breasts

Very frequent (80-99%)HP:0003187

Abnormal skeletal development

Frequent (30-79%)HP:0002652

Decreased sexual hair

Frequent (30-79%)HP:0002225

Decreased size of cranium

Frequent (30-79%)HP:0000252

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Partial loss of hair(parent)

Hereditary disorder of endocrine system(parent)

Hereditary disorder of the integument(parent)

Reproductive system hereditary disorder(parent)

Primary hypogonadism(parent)

Quick Facts

SNOMED CT: 719275009
UMLS CUI: C2931374
Fully Specified Name: Primary hypergonadotropic hypogonadism and partial alopecia 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.