Hypothyroidism due to mutation in transcription factor of pituitary development

disorder

SNOMED 718194004CUI C4273672

Overview

Hypothyroidism due to mutation in transcription factor of pituitary development 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.

Decreased thyrotropin level

Very frequent (80-99%)HP:0031098

Reduced radioactive iodine uptake

Very frequent (80-99%)HP:0031219

TSH deficient hypothyroidism

Very frequent (80-99%)HP:0008245

Anomaly of the epiphyses

Frequent (30-79%)HP:0005930

Anterior pituitary hypoplasia

Frequent (30-79%)HP:0010627

Bradycardia

Frequent (30-79%)HP:0001662

Decreased circulating T4 concentration

Frequent (30-79%)HP:0031507

Delayed closure of the fontanelles

Frequent (30-79%)HP:0000270

Delayed ossification proximal femoral epiphyses

Frequent (30-79%)HP:0008828

Dyschezia

Frequent (30-79%)HP:0002019

Facial swelling

Frequent (30-79%)HP:0000282

Feeding difficulties in infancy

Frequent (30-79%)HP:0008872

Growth deficiency

Frequent (30-79%)HP:0001510

Hypopituitarism

Frequent (30-79%)HP:0040075

Hyporeflexia

Frequent (30-79%)HP:0001265

Hypothermia

Frequent (30-79%)HP:0002045

Inactivity

Frequent (30-79%)HP:0001254

Large posterior fontanelle

Frequent (30-79%)HP:0004491

Lingual hyperplasia

Frequent (30-79%)HP:0000158

Neurodevelopmental delay

Frequent (30-79%)HP:0012758

Panhypopituitarism

Frequent (30-79%)HP:0000871

Prolonged neonatal jaundice

Frequent (30-79%)HP:0006579

Reduced circulating prolactin concentration

Frequent (30-79%)HP:0008202

Small thyroid gland

Frequent (30-79%)HP:0005990

Tiredness

Frequent (30-79%)HP:0012378

Umbilical hernia

Frequent (30-79%)HP:0001537

Absence of corpus callosum

Occasional (5-29%)HP:0001274

Cerebellar signs

Occasional (5-29%)HP:0001317

Decreased circulating ACTH concentration

Occasional (5-29%)HP:0002920

Decreased circulating follicle stimulating hormone concentration

Occasional (5-29%)HP:0030341

Related Conditions

Congenital hypothyroidism(parent)

Hereditary disorder of endocrine system(parent)

Quick Facts

SNOMED CT: 718194004
UMLS CUI: C4273672
Fully Specified Name: Hypothyroidism due to mutation in transcription factor of pituitary development (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.