Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome

disorder

SNOMED 724097003CUI C4518329

Overview

Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic 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.

Moyamoya phenomenon

Very frequent (80-99%)HP:0011834

Azoospermia

Frequent (30-79%)HP:0000027

Brain and/or spinal cord issue

Frequent (30-79%)HP:0000707

Cataract

Frequent (30-79%)HP:0000518

Cerebral hemorrhage

Frequent (30-79%)HP:0001342

Congenital ptosis

Frequent (30-79%)HP:0007970

Decreased body height

Frequent (30-79%)HP:0004322

Delayed puberty

Frequent (30-79%)HP:0000823

Functional motor deficit

Frequent (30-79%)HP:0004302

Funny looking face

Frequent (30-79%)HP:0001999

High blood pressure

Frequent (30-79%)HP:0000822

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased length of philtrum

Frequent (30-79%)HP:0000343

Ischemic stroke

Frequent (30-79%)HP:0002140

Premature graying of the hair

Frequent (30-79%)HP:0002216

Primary hypogonadism

Frequent (30-79%)HP:0000815

Retrognathia

Frequent (30-79%)HP:0000278

Stretched and thinned heart muscle

Frequent (30-79%)HP:0001644

Cognitive delay

Occasional (5-29%)HP:0001263

Decreased response to growth hormone stimulation test

Occasional (5-29%)HP:0000824

Decreased testicular size

Occasional (5-29%)HP:0008734

Deep set eye

Occasional (5-29%)HP:0000490

Flared nasal alae

Occasional (5-29%)HP:0000454

Increased nasal width

Occasional (5-29%)HP:0000445

Low-set ears

Occasional (5-29%)HP:0000369

Muscle weakness

Occasional (5-29%)HP:0001324

Plaque build-up in arteries supplying blood to heart

Occasional (5-29%)HP:0001677

Related Conditions

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

Moyamoya disease(parent)

Small stature(parent)

Cardiovascular system hereditary disorder(parent)

Hereditary disorder of endocrine system(parent)

Hereditary disorder of nervous system(parent)

Reproductive system hereditary disorder(parent)

Primary hypogonadism(parent)

Congenital stenosis of carotid artery(parent)

Intracranial vascular malformation(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Intracranial carotid artery stenosis(parent)

Abnormality of circle of Willis morphology(parent)

Quick Facts

SNOMED CT: 724097003
UMLS CUI: C4518329
Fully Specified Name: Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.