Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome

disorder

SNOMED 724281002CUI C4510568

Overview

Hyposmia, nasal and ocular hypoplasia, hypogonadotropic 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 morphology of the midface

Very frequent (80-99%)HP:0000309

Abnormality of position of teeth

Very frequent (80-99%)HP:0000692

Absent nares

Very frequent (80-99%)HP:0100596

Aplasia of the nose

Very frequent (80-99%)HP:0009927

Decreased activity of gonads

Very frequent (80-99%)HP:0000135

Failure of eruption of permanent teeth

Very frequent (80-99%)HP:0006352

Hypogenitalism

Very frequent (80-99%)HP:0003241

Hypoplasia of penis

Very frequent (80-99%)HP:0008736

Hypoplasia of the olfactory bulb

Very frequent (80-99%)HP:0040326

Inguinal hernia

Very frequent (80-99%)HP:0000023

Lens opacities

Very frequent (80-99%)HP:0000518

Lost smell

Very frequent (80-99%)HP:0000458

One nostril

Very frequent (80-99%)HP:0009932

Sense of smell impaired

Very frequent (80-99%)HP:0004409

Absence of eyeballs

Frequent (30-79%)HP:0000528

Choanal atresia

Frequent (30-79%)HP:0000453

Cryptorchidism

Frequent (30-79%)HP:0000028

Gynaecomastia

Frequent (30-79%)HP:0000771

Hypotrophic nose

Frequent (30-79%)HP:0009924

Iris coloboma

Frequent (30-79%)HP:0000612

Lax abdominal musculature

Frequent (30-79%)HP:0009023

Legal blindness

Frequent (30-79%)HP:0000618

Low gonadotropins (secondary hypogonadism)

Frequent (30-79%)HP:0000044

Nanophthalmos

Frequent (30-79%)HP:0000568

Small upper jaw

Frequent (30-79%)HP:0000327

Visual loss

Frequent (30-79%)HP:0000572

Wandering eye

Frequent (30-79%)HP:0000646

Cleft of palate

Occasional (5-29%)HP:0000175

Dacryocystocele

Occasional (5-29%)HP:0030752

Optic atrophy

Occasional (5-29%)HP:0000648

Related Conditions

Multiple malformation syndrome with facial defects as major feature(parent)

Hypoplasia of eye(parent)

Congenital hypoplasia of nose(parent)

Congenital hypogonadotropic hypogonadism(parent)

Genetic disease(parent)

Quick Facts

SNOMED CT: 724281002
UMLS CUI: C4510568
Fully Specified Name: Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism 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.