Pseudohypoparathyroidism type 1C

disorder

SNOMED 717792007CUI C2932716

Overview

Pseudohypoparathyroidism type 1C 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.

Pseudohypoparathyroidism

Always present (100%)HP:0000852

Thyroid-stimulating hormone excess

Always present (100%)HP:0002925

Hyperphosphatemia

Very frequent (80-99%)HP:0002905

Increased serum parathyroid hormone

Very frequent (80-99%)HP:0003165

Low blood calcium levels

Very frequent (80-99%)HP:0002901

Low urinary cyclic AMP response to PTH administration

Very frequent (80-99%)HP:0003456

Pituitary resistance to thyroid hormone

Very frequent (80-99%)HP:0008227

Basal ganglion calcification

Frequent (30-79%)HP:0002135

Brachydactyly

Frequent (30-79%)HP:0001156

Cataract

Frequent (30-79%)HP:0000518

Choroid plexus calcification

Frequent (30-79%)HP:0006960

Constrictive median neuropathy

Frequent (30-79%)HP:0012185

Decreased body height

Frequent (30-79%)HP:0004322

Decreased response to growth hormone stimulation test

Frequent (30-79%)HP:0000824

Defective enamel matrix

Frequent (30-79%)HP:0006297

Delayed eruption of teeth

Frequent (30-79%)HP:0000684

Ectopic bone formation

Frequent (30-79%)HP:0011986

Flat nasal bridge

Frequent (30-79%)HP:0005280

Hypoplastic fourth metacarpal

Frequent (30-79%)HP:0010044

Increased appetite

Frequent (30-79%)HP:0002591

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Obesity

Frequent (30-79%)HP:0001513

Poor school performance

Frequent (30-79%)HP:0001249

Puffy cheeks

Frequent (30-79%)HP:0000293

Round facies

Frequent (30-79%)HP:0000311

Short 5th metacarpal

Frequent (30-79%)HP:0010047

Short fifth metatarsal

Frequent (30-79%)HP:0004704

Short long bone of foot

Frequent (30-79%)HP:0010743

Short neck

Frequent (30-79%)HP:0000470

Shortened long bones of hand

Frequent (30-79%)HP:0010049

Related Conditions

Autosomal dominant hereditary disorder(parent)

Pseudohypoparathyroidism(parent)

Hereditary disorder of endocrine system(parent)

Quick Facts

SNOMED CT: 717792007
UMLS CUI: C2932716
Fully Specified Name: Pseudohypoparathyroidism type 1C (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.