Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome

disorder

SNOMED 719098007CUI C1970269

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Peripheral hypotonia

Always present (100%)HP:0001252

Wide based walk

Always present (100%)HP:0002136

Hypoxemia

Very frequent (80-99%)HP:0012418

Oxygen desaturation on exertion

Very frequent (80-99%)HP:0030874

Thyroid disease

Very frequent (80-99%)HP:0000820

Abnormality of the respiratory system

Frequent (30-79%)HP:0002086

Ataxia

Frequent (30-79%)HP:0001251

Brain and/or spinal cord issue

Frequent (30-79%)HP:0000707

Choreiform movements

Frequent (30-79%)HP:0002072

Choreoathetoid movements

Frequent (30-79%)HP:0001266

Congenital hypothyroidism

Frequent (30-79%)HP:0000851

Decreased response to growth hormone stimulation test

Frequent (30-79%)HP:0000824

Elevated bronchoalveolar lavage fluid neutrophil proportion

Frequent (30-79%)HP:0032977

Ground-glass opacification on pulmonary HRCT

Frequent (30-79%)HP:0025179

Hypotonia, early

Frequent (30-79%)HP:0008947

Laboured breathing

Frequent (30-79%)HP:0002098

Lung infiltrates

Frequent (30-79%)HP:0002113

Parenchymal consolidation

Frequent (30-79%)HP:0032177

Pituitary gonadotropin deficiency

Frequent (30-79%)HP:0008213

Respiratory distress, neonatal

Frequent (30-79%)HP:0002643

Restrictive respiratory disease

Frequent (30-79%)HP:0002091

Tachypnea

Frequent (30-79%)HP:0002789

Abnormal lung parenchyma morphology

Occasional (5-29%)HP:0006530

Apraxia

Occasional (5-29%)HP:0002186

Atria septal defect

Occasional (5-29%)HP:0001631

Cholesteatoma

Occasional (5-29%)HP:0009797

Clumsiness

Occasional (5-29%)HP:0002312

Cognitive delay

Occasional (5-29%)HP:0001263

Cystic pattern on pulmonary HRCT

Occasional (5-29%)HP:0025394

Difficulty articulating speech

Occasional (5-29%)HP:0001260

Related Conditions

Autosomal dominant hereditary disorder(parent)

Quick Facts

SNOMED CT: 719098007
UMLS CUI: C1970269
Fully Specified Name: Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress 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.