Cutaneous mastocytosis, short stature, hearing loss syndrome

disorder

SNOMED 722453009CUI C4302582

Overview

Cutaneous mastocytosis, short stature, hearing loss 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.

Abdominal discomfort

Very frequent (80-99%)HP:0002027

Abnormal skin colour

Very frequent (80-99%)HP:0001000

Areflexia

Very frequent (80-99%)HP:0001284

Bilateral fifth digit clinodactyly

Very frequent (80-99%)HP:0004209

Central hypotonia

Very frequent (80-99%)HP:0001252

Deafness

Very frequent (80-99%)HP:0000365

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Delayed closure of the fontanelles

Very frequent (80-99%)HP:0000270

Dilated cerebral ventricle

Very frequent (80-99%)HP:0002119

Erythema

Very frequent (80-99%)HP:0010783

Flat, discolored area of skin

Very frequent (80-99%)HP:0012733

Generalised hyperpigmentation

Very frequent (80-99%)HP:0007440

Hearing loss, conductive

Very frequent (80-99%)HP:0000405

High arched palate

Very frequent (80-99%)HP:0000218

Hives

Very frequent (80-99%)HP:0001025

Hypoplastic mandible

Very frequent (80-99%)HP:0000347

Increased height of lower lip vermilion

Very frequent (80-99%)HP:0000179

Inverted triangular face

Very frequent (80-99%)HP:0000325

Irregular hyperpigmentation

Very frequent (80-99%)HP:0007400

Mastocytosis

Very frequent (80-99%)HP:0100495

Microtia

Very frequent (80-99%)HP:0008551

Mongoloid slant

Very frequent (80-99%)HP:0000582

Multiple, subcutaneous nodules

Very frequent (80-99%)HP:0001482

Optic atrophy

Very frequent (80-99%)HP:0000648

Papules

Very frequent (80-99%)HP:0200034

Postnatal failure to thrive

Very frequent (80-99%)HP:0001508

Prominent eyes

Very frequent (80-99%)HP:0000520

Proximal interphalangeal finger joint contractures

Very frequent (80-99%)HP:0100490

Seizures

Very frequent (80-99%)HP:0001250

Related Conditions

Conductive hearing loss(parent)

Recessive hereditary disorder (autosomal)(parent)

Small stature(parent)

Hereditary disorder of the integument(parent)

Cutaneous mastocytosis(parent)

Hereditary white blood cell disorder(parent)

Developmental hereditary disorder(parent)

Congenital microcephalus(parent)

Chronic deafness(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 722453009
UMLS CUI: C4302582
Fully Specified Name: Cutaneous mastocytosis, short stature, hearing loss 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.