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Deficiency of steroid 11-beta-hydroxylase

disorder
SNOMED 124214007CUI C0268292

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Decreased aldosterone production
Always present (100%)HP:0004319
Elevated serum 11-deoxycortisol
Always present (100%)HP:0025436
Ambiguous external genitalia
Very frequent (80-99%)HP:0000062
Decreased circulating renin level
Very frequent (80-99%)HP:0003351
Early bone maturation
Very frequent (80-99%)HP:0005616
Elevated circulating 17-OHP
Very frequent (80-99%)HP:0031213
Growth abnormality
Very frequent (80-99%)HP:0001507
High blood pressure
Very frequent (80-99%)HP:0000822
Hypocortisolism
Very frequent (80-99%)HP:0008163
Increased circulating androgen concentration
Very frequent (80-99%)HP:0030348
Increased circulating androstenedione concentration
Very frequent (80-99%)HP:0025380
Increased urinary 11-deoxycorticosterone level
Very frequent (80-99%)HP:0032330
Low blood potassium levels
Very frequent (80-99%)HP:0002900
Acne
Frequent (30-79%)HP:0001061
Ambiguous genitalia, female
Frequent (30-79%)HP:0000061
Decreased body height
Frequent (30-79%)HP:0004322
Decreased testicular size
Frequent (30-79%)HP:0008734
Early onset of puberty in males
Frequent (30-79%)HP:0008185
Hirsutism
Frequent (30-79%)HP:0001007
Increased circulating ACTH level
Frequent (30-79%)HP:0003154
Isosexual precocious puberty
Frequent (30-79%)HP:0008236
Long penis
Frequent (30-79%)HP:0000040
Menstrual irregularity
Frequent (30-79%)HP:0000858
Patchy darkened skin
Frequent (30-79%)HP:0000953
Precocious puberty
Frequent (30-79%)HP:0000826
Premature adrenarche
Frequent (30-79%)HP:0012412
Premature pubarche
Frequent (30-79%)HP:0012411
Prominent clitoris
Frequent (30-79%)HP:0008665
Gynaecomastia
Occasional (5-29%)HP:0000771
Hair loss
Occasional (5-29%)HP:0001596

Related Conditions

Specific enzyme deficiency(parent)
Congenital adrenal hyperplasia(parent)

Quick Facts

SNOMED CT
124214007
UMLS CUI
C0268292
Fully Specified Name
Deficiency of steroid 11-beta-monooxygenase (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.