Hereditary cryohydrocytosis with reduced stomatin

disorder

SNOMED 782911008CUI C5190707

Overview

Hereditary cryohydrocytosis with reduced stomatin 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.

Cataract

Frequent (30-79%)HP:0000518

Dull intelligence

Frequent (30-79%)HP:0001249

Growth delay as children

Frequent (30-79%)HP:0008897

Hepatosplenomegaly

Frequent (30-79%)HP:0001433

Hypoglycorrhachia

Frequent (30-79%)HP:0011972

Increased intracellular Na+ levels

Frequent (30-79%)HP:0003575

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Red cell stomatocytosis

Frequent (30-79%)HP:0004446

Seizures

Frequent (30-79%)HP:0001250

Spontaneous hemolytic crises

Frequent (30-79%)HP:0005525

Yellowing of the skin

Frequent (30-79%)HP:0000952

Abnormality of movement

Occasional (5-29%)HP:0100022

Ataxia

Occasional (5-29%)HP:0001251

Big calvaria

Occasional (5-29%)HP:0000256

Brachydactyly

Occasional (5-29%)HP:0001156

Broad neck

Occasional (5-29%)HP:0000475

Communicating hydrocephalus

Occasional (5-29%)HP:0001334

Conjugated hyperbilirubinemia

Occasional (5-29%)HP:0002908

Decreased body height

Occasional (5-29%)HP:0004322

Decreased size of cranium

Occasional (5-29%)HP:0000252

Decreased thalamic volume

Occasional (5-29%)HP:0012695

Delayed myelination

Occasional (5-29%)HP:0012448

Intracerebral periventricular calcifications

Occasional (5-29%)HP:0007229

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Large pinnae

Occasional (5-29%)HP:0000400

Paucity of cerebral white matter

Occasional (5-29%)HP:0012430

Predisposition to infections

Occasional (5-29%)HP:0002719

Short neck

Occasional (5-29%)HP:0000470

Shorter than typical length between neck and abdomen

Occasional (5-29%)HP:0010306

Spastic paraplegia

Occasional (5-29%)HP:0001258

Related Conditions

Hereditary stomatocytosis(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Anemia due to membrane defect(parent)

Quick Facts

SNOMED CT: 782911008
UMLS CUI: C5190707
Fully Specified Name: Hereditary cryohydrocytosis with reduced stomatin (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.