Congenital hypothyroidism due to absence of thyroid gland

disorder

SNOMED 718690009CUI C4305275

Overview

Congenital hypothyroidism due to absence of thyroid gland 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 thyroglobulin concentration

Very frequent (80-99%)HP:0025483

Anomaly of the face

Very frequent (80-99%)HP:0000271

Athyroidal hypothyroidism

Very frequent (80-99%)HP:0008191

Belly bloating

Very frequent (80-99%)HP:0003270

Constipation

Very frequent (80-99%)HP:0002019

Excessive daytime somnolence

Very frequent (80-99%)HP:0001262

Feeding difficulties

Very frequent (80-99%)HP:0011968

Hypothyroidism

Very frequent (80-99%)HP:0000821

Large bregma sutures

Very frequent (80-99%)HP:0000239

Lingual hyperplasia

Very frequent (80-99%)HP:0000158

Muscle weakness

Very frequent (80-99%)HP:0001324

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Thickened facial skin with coarse facial features

Very frequent (80-99%)HP:0000280

Tiredness

Very frequent (80-99%)HP:0012378

Cool skin temperature

Frequent (30-79%)HP:0033850

Decreased body height

Frequent (30-79%)HP:0004322

Facial swelling

Frequent (30-79%)HP:0000282

Hoarse cry

Frequent (30-79%)HP:0001615

Inactivity

Frequent (30-79%)HP:0001254

Jaundice, neonatal

Frequent (30-79%)HP:0006579

Mental and motor retardation

Frequent (30-79%)HP:0001263

Mental retardation, severe

Frequent (30-79%)HP:0010864

Umbilical hernia

Frequent (30-79%)HP:0001537

Unconjugated hyperbilirubinemia

Frequent (30-79%)HP:0008282

Very poor growth

Frequent (30-79%)HP:0001510

Related Conditions

Congenital hypothyroidism(parent)

Quick Facts

SNOMED CT: 718690009
UMLS CUI: C4305275
Fully Specified Name: Congenital hypothyroidism due to absence of thyroid gland (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 25

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.