Complete androgen insensitivity syndrome

disorder

SNOMED 368851000119102CUI C0936016

Overview

Complete androgen insensitivity 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 morphology of female internal genitalia

Very frequent (80-99%)HP:0000008

Abnormality of the uterine cervix

Very frequent (80-99%)HP:0012888

Absent or rudimentary fallopian tubes

Very frequent (80-99%)HP:0008655

Accelerated linear growth

Very frequent (80-99%)HP:0000098

Blind-ended vagina

Very frequent (80-99%)HP:0040314

Cryptorchidism, bilateral

Very frequent (80-99%)HP:0008689

Elevated circulating luteinizing hormone level

Very frequent (80-99%)HP:0011969

Female external genitalia in individual with 46,XY karyotype

Very frequent (80-99%)HP:0008730

High serum testosterone level

Very frequent (80-99%)HP:0030088

Increased estradiol level

Very frequent (80-99%)HP:0025134

Male infertility

Very frequent (80-99%)HP:0003251

Primary amenorrhea

Very frequent (80-99%)HP:0000786

uterus absent

Very frequent (80-99%)HP:0000151

Absent axillary hair

Frequent (30-79%)HP:0002221

Absent pubic hair

Frequent (30-79%)HP:0002555

Decreased sexual hair

Frequent (30-79%)HP:0002225

Delayed puberty

Frequent (30-79%)HP:0000823

Excessive, persistent worry and fear

Frequent (30-79%)HP:0000739

Increased circulating antimullerian hormone concentration

Frequent (30-79%)HP:0031102

Sparse axillary and pubic hair

Frequent (30-79%)HP:0002215

Depressive episode

Occasional (5-29%)HP:0000716

Testicular neoplasm

Occasional (5-29%)HP:0010788

Abnormal circulating follicle-stimulating hormone concentration

Very rare (1-4%)HP:0030346

Acne

Very rare (1-4%)HP:0001061

Germ cell neoplasia

Very rare (1-4%)HP:0100728

Related Conditions

Androgen resistance syndrome(parent)

Quick Facts

SNOMED CT: 368851000119102
UMLS CUI: C0936016
Fully Specified Name: Complete androgen insensitivity syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 25

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.