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Infantile systemic hyalinosis

disorder
SNOMED 238867003CUI C5574678

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.

Adrenal gland disease
Very frequent (80-99%)HP:0000834
Brachydactyly
Very frequent (80-99%)HP:0001156
Chronic diarrhoea
Very frequent (80-99%)HP:0002028
Coarse face
Very frequent (80-99%)HP:0000280
Diffusely thickened skin
Very frequent (80-99%)HP:0001072
Digestive system disease
Very frequent (80-99%)HP:0011024
Fat in feces
Very frequent (80-99%)HP:0002570
Feeding difficulties
Very frequent (80-99%)HP:0011968
Frequent fractures
Very frequent (80-99%)HP:0002757
Hives
Very frequent (80-99%)HP:0001025
Immune deficiency
Very frequent (80-99%)HP:0002721
Increased susceptibility to fractures
Very frequent (80-99%)HP:0002659
Intestinal malabsorption
Very frequent (80-99%)HP:0002024
Large head
Very frequent (80-99%)HP:0000256
Lymphoedema
Very frequent (80-99%)HP:0001004
Micromelia
Very frequent (80-99%)HP:0002983
Misshapened teeth
Very frequent (80-99%)HP:0006482
Multiple, subcutaneous nodules
Very frequent (80-99%)HP:0001482
Muscular abnormality
Very frequent (80-99%)HP:0003011
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Open skin sore
Very frequent (80-99%)HP:0200042
Oral soft tissue hyperplasia
Very frequent (80-99%)HP:0000212
Osteomalacia
Very frequent (80-99%)HP:0002749
Osteopenia
Very frequent (80-99%)HP:0000938
Osteoporosis
Very frequent (80-99%)HP:0000939
Patchy darkened skin
Very frequent (80-99%)HP:0000953
Polycystic ovary disease
Very frequent (80-99%)HP:0000147
Proximal interphalangeal finger joint contractures
Very frequent (80-99%)HP:0100490
Recurrent bacterial infections
Very frequent (80-99%)HP:0002718
Short neck
Very frequent (80-99%)HP:0000470

Related Conditions

Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of the integument(parent)
Hereditary disorder of musculoskeletal system(parent)
Hyaline fibromatosis syndrome(parent)

Quick Facts

SNOMED CT
238867003
UMLS CUI
C5574678
Fully Specified Name
Infantile systemic hyalinosis (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.