Short stature with delayed bone age due to thyroid hormone metabolism deficiency

disorder

SNOMED 763890006CUI C4706661

Overview

Short stature with delayed bone age due to thyroid hormone metabolism deficiency 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.

Abnormal circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Decreased circulating free T3

Frequent (30-79%)HP:0032210

Increased circulating T4 concentration

Frequent (30-79%)HP:0031506

Thyroid-stimulating hormone excess

Frequent (30-79%)HP:0002925

Abnormal circulating insulin concentration

Occasional (5-29%)HP:0040214

Abnormal serum selenium concentration

Occasional (5-29%)HP:0031903

Decreased body height

Occasional (5-29%)HP:0004322

Distal muscle weakness in lower limbs

Occasional (5-29%)HP:0009053

Eye drop

Occasional (5-29%)HP:0000508

Fatty replacement of skeletal muscle

Occasional (5-29%)HP:0012548

Gowers sign

Occasional (5-29%)HP:0003391

Low blood sugar when fasting

Occasional (5-29%)HP:0003162

Obesity

Occasional (5-29%)HP:0001513

Poor attention span

Occasional (5-29%)HP:0000736

Poor growth

Occasional (5-29%)HP:0001510

Poor school performance

Occasional (5-29%)HP:0001249

Proximal muscle weakness in lower limbs

Occasional (5-29%)HP:0008994

Retarded ossification

Occasional (5-29%)HP:0002750

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Congenital hypothyroidism(parent)

Global developmental delay(parent)

Hereditary disorder of endocrine system(parent)

Short stature co-occurrent and due to endocrine disorder(parent)

Developmental hereditary disorder(parent)

Bone disease(parent)

Hereditary disorder of musculoskeletal system(parent)

Quick Facts

SNOMED CT: 763890006
UMLS CUI: C4706661
Fully Specified Name: Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.