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Deafness and hypogonadism syndrome

disorder
SNOMED 718714006CUI C1844680

Overview

Deafness and hypogonadism 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 sperm development
Very frequent (80-99%)HP:0008669
Abnormality of the internal auditory canal
Very frequent (80-99%)HP:0011384
Delayed puberty
Very frequent (80-99%)HP:0000823
Enlarged cochlear aqueduct
Very frequent (80-99%)HP:0011388
Hearing loss, conductive
Very frequent (80-99%)HP:0000405
Ossicular malformation
Very frequent (80-99%)HP:0004452
Primary hypogonadism
Very frequent (80-99%)HP:0000815
Progressive bilateral sensorineural hearing loss
Very frequent (80-99%)HP:0000408
Retarded ossification
Very frequent (80-99%)HP:0002750
Severe conductive hearing impairment
Very frequent (80-99%)HP:0012717
Stapes ankylosis
Very frequent (80-99%)HP:0000381
Behavioral changes
Frequent (30-79%)HP:0000708
Heterochromia iridis
Occasional (5-29%)HP:0001100
Increased distance between eyes
Occasional (5-29%)HP:0000316
Intellectual impairment
Occasional (5-29%)HP:0100543
Night blindness, congenital
Occasional (5-29%)HP:0007642
Palpebronasal fold
Occasional (5-29%)HP:0000286
Reduced blood thiamine level
Occasional (5-29%)HP:0100503

Quick Facts

SNOMED CT
718714006
UMLS CUI
C1844680
Fully Specified Name
Deafness and hypogonadism syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
18
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.