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Congenital ichthyosis, microcephalus, tetraplegia syndrome

disorder
SNOMED 1197059004CUI C5679626

Overview

Congenital ichthyosis, microcephalus, tetraplegia 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.

Absence of pain sensation
Very frequent (80-99%)HP:0007021
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Disorder of face
Very frequent (80-99%)HP:0000271
Ichthyosiform abnormality of the skin
Very frequent (80-99%)HP:0008064
Increased reflexes
Very frequent (80-99%)HP:0001347
Muscular abnormality
Very frequent (80-99%)HP:0003011
Quadriplegia
Very frequent (80-99%)HP:0002445
Xerosis
Very frequent (80-99%)HP:0000958

Related Conditions

Disorder of muscle(parent)
Congenital ichthyosis of skin(parent)
Autosomal hereditary disorder(parent)
Spastic tetraplegia(parent)
Developmental delay(parent)
Hereditary disorder of nervous system(parent)
Athetosis(parent)
Sensorineural hearing loss(parent)
Hereditary hearing loss(parent)

Quick Facts

SNOMED CT
1197059004
UMLS CUI
C5679626
Fully Specified Name
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
8
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.