| UROS |
263700 |
Musculoskeletal-diseases |
severe bone loss; contractures; bone resorption; deformities
|
musculoskeletal |
9092747 12060112 15304101 |
| UROS |
263700 |
Bone-diseases |
|
musculoskeletal |
#9092747 #12060112 |
| UROS |
263700 |
Pathological-fractures |
pathologic; demineralization; vertebral compression; vertebral collapse; osteolytic changes
|
musculoskeletal |
9092747 12060112 |
| UROS |
263700 |
Digestive-system-diseases |
|
gastrointestinal |
#9092747 #9834209 #10583066 #11121156 #12533808 #15065102 #16365260 |
| UROS |
263700 |
Liver-diseases |
liver dysfunction; hepatic cytolysis; hepatic insufficiency
|
gastrointestinal |
#9834209 11121156 12533808 #15065102 |
| UROS |
263700 |
Liver-enzymes-abnormal |
ALT elevated; AST elevated
|
gastrointestinal |
12533808 15065102 |
| UROS |
263700 |
Hepatomegaly |
hepatosplenomegaly
|
gastrointestinal |
9834209 12533808 15065102 |
| UROS |
263700 |
Abdominal-pain |
occasional; episodes of abdominal pain
|
gastrointestinal |
9092747 10583066 16365260 |
| UROS |
263700 |
Feeding-difficulties |
nasogastric feeding
|
gastrointestinal |
15065102 |
| UROS |
263700 |
Vomiting |
gastric reflux
|
gastrointestinal |
15065102 |
| UROS |
263700 |
Nervous-system-diseases |
|
neurologic |
#12533808 |
| UROS |
263700 |
Central-nervous-system-diseases |
|
neurologic |
#12533808 |
| UROS |
263700 |
Brain-diseases |
|
neurologic |
#12533808 |
| UROS |
263700 |
Cerebellar-atrophy |
cerebellar vermis hypoplasia; hypoplastic cerebellum
|
neurologic |
12533808 |
| UROS |
263700 |
Eye-diseases |
|
ophthalmologic |
#9092747 #11121156 #12060112 #15065102 |
| UROS |
263700 |
Conjunctivitis |
corneal scarring; sclerotic changes
|
ophthalmologic |
9092747 11121156 |
| UROS |
263700 |
Corneal-diseases |
cloudy corneas; corneal inflammation
|
ophthalmologic |
9092747 15065102 |
| UROS |
263700 |
Glaucoma |
congenital glaucoma
|
ophthalmologic |
15065102 |
| UROS |
263700 |
Ocular-motility-disorders |
|
ophthalmologic |
#15065102 |
| UROS |
263700 |
Strabismus |
esotropia
|
ophthalmologic |
15065102 |
| UROS |
263700 |
Retinal-diseases |
severe retinal dragging
|
ophthalmologic |
15065102 |
| UROS |
263700 |
Vision-disorders |
related to scarring; amblyopia
|
ophthalmologic |
12060112 15065102 |
| UROS |
263700 |
Genitourinary-diseases |
|
genitourinary |
#12533808 |
| UROS |
263700 |
Female-genital-diseases |
|
genitourinary |
#12533808 |
| UROS |
263700 |
Pregnancy-complications |
hydrops fetalis; hygroma; nuchal cystic hygroma; generalized fetal edema; dark brown amniotic fluid
|
genitourinary |
12533808 |
| UROS |
263700 |
Cardiovascular-diseases |
|
cardiovascular |
#10583066 |
| UROS |
263700 |
Vascular-diseases |
|
cardiovascular |
#10583066 |
| UROS |
263700 |
Hypotension |
low blood pressure; acral cyanosis
|
cardiovascular |
10583066 |
| UROS |
263700 |
Hematologic-diseases |
|
hematologic |
#9092747 #9188670 #9834209 #10583066 #11254675 #12060112 #12533808 #15065102 #15304101 |
| UROS |
263700 |
Anemia |
anemic; hemolytic; hemolytic anemia; chronic hemolysis
|
hematologic |
9092747 9188670 9834209 11254675 12060112 12533808 15065102 15304101 |
| UROS |
263700 |
Blood-platelet-disorders |
|
hematologic |
#9092747 #12060112 #12533808 #15065102 |
| UROS |
263700 |
Thrombocytopenia |
thrombocytopenic
|
hematologic |
9092747 12060112 12533808 15065102 |
| UROS |
263700 |
Blood-protein-disorders |
|
hematologic |
#12533808 |
| UROS |
263700 |
Hypoalbuminemia |
reduction of albumin
|
hematologic |
12533808 |
| UROS |
263700 |
Hemoglobin-levels-abnormal |
hemoglobin deficiency
|
hematologic |
9834209 10583066 15065102 |
| UROS |
263700 |
Leukocyte-disorders |
|
hematologic |
#12060112 |
| UROS |
263700 |
Leukopenia |
|
hematologic |
12060112 |
| UROS |
263700 |
Reticulocytosis |
reticulocytes elevated
|
hematologic |
10583066 |
| UROS |
263700 |
Skin-diseases |
cutaneous lesions; cutaneous involvement; cutaneous deformity; painful erosions; skin rash; pseudoscleroderma; ulcers
|
dermatologic |
9092747 #9188670 9834209 10583066 #11121156 #11254675 #12060112 12060141 15065102 15304101 16365260 |
| UROS |
263700 |
Hair-diseases |
|
dermatologic |
#9092747 #10583066 #12060112 #12060141 #15065102 #15304101 #16365260 |
| UROS |
263700 |
Hypertrichosis |
periorbital hypertrichosis; face; extremities; alopecia; hirsutism
|
dermatologic |
9092747 10583066 12060112 12060141 15065102 15304101 16365260 |
| UROS |
263700 |
Photosensitivity-disorders |
cutaneous photosensitivity; sun exposure triggered epsiodes
|
dermatologic |
9092747 9188670 10583066 11254675 12060112 15304101 16365260 |
| UROS |
263700 |
Pigmentation-disorders |
|
dermatologic |
#9092747 #10583066 #12060112 #15304101 #16365260 |
| UROS |
263700 |
Hyperpigmentation |
dyspigmentation; neck; hands; extremities; thickened skin with areas of hypo and hyperpigmentation; hyperpigmented scars
|
dermatologic |
9092747 10583066 12060112 15304101 16365260 |
| UROS |
263700 |
Hypopigmentation |
centrofacial hypopigmentation; thickened skin with areas of hypo and hyperpigmentation
|
dermatologic |
9092747 12060112 |
| UROS |
263700 |
Pruritus |
mutilating; scarring; skin; face; upper extremities; lower extremities; scars
|
dermatologic |
9092747 10583066 11121156 11254675 12060112 15304101 16365260 |
| UROS |
263700 |
Blistering |
bullous erruptions; skin fragility; skin vesicles painful
|
dermatologic |
9092747 10583066 11121156 12060112 12060141 15065102 15304101 16365260 |
| UROS |
263700 |
Paleness |
pallor
|
dermatologic |
9834209 10583066 |
| UROS |
263700 |
Metabolic-diseases |
|
metabolic |
#9092747 #9188670 #9834209 #10583066 #11121156 #11254675 #12060112 #12060141 #12533808 #15065102 #15304101 #16365260 |
| UROS |
263700 |
Hyperbilirubinemia |
bilirubinemia
|
metabolic |
10583066 12060112 12533808 |
| UROS |
263700 |
Hyperferricemia |
ferritin elevated; hematopoiesis abnormal
|
metabolic |
12533808 |
| UROS |
263700 |
Porphyrins-abnormal |
elevated free erythrocyte protoporphyrin; uroporphyrin elevated; coproporphyrin elevated
|
metabolic |
9092747 9188670 9834209 10583066 11254675 12060141 12533808 15065102 15304101 |
| UROS |
263700 |
Porphyrinuria |
reddish discoloration of the urine; uroporphyrinuria; red coloured urine
|
metabolic |
9092747 9188670 9834209 10583066 11121156 12060112 15065102 15304101 16365260 |
| UROS |
263700 |
Immune-system-diseases |
|
immunologic |
#9092747 #12060112 |
| UROS |
263700 |
Infections |
increased risk; secondary infections
|
immunologic |
9092747 12060112 |
| UROS |
263700 |
Body-temperature-changes |
|
miscellaneous |
#10583066 |
| UROS |
263700 |
Fever |
episodes of fever
|
miscellaneous |
10583066 |
| UROS |
263700 |
Splenomegaly |
secundary hypersplenism; hypersplenism; hepatosplenomegaly
|
miscellaneous |
9834209 10583066 11254675 12060112 12060141 12533808 15065102 15304101 16365260 |
| UROS |
263700 |
Growth-disorders |
|
miscellaneous |
#12533808 |
| UROS |
263700 |
Growth-deficiency |
intrauterine growth retardation
|
miscellaneous |
12533808 |
| UROS |
263700 |
Tooth-abnormalities |
erythrodontia; reddish brown teeth; poor dentition; reddish grey teeth; red fluorescence when exposed to Woods light
|
miscellaneous |
9092747 9834209 10583066 12060112 12060141 15304101 |
| UROS |
263700 |
Dysmorphism-and-abnormalities |
simian crease; bilateral simian crease; hypoplastic nails; low set ears; facial dysmorphisms; hypertelorism; upslanting palpebral fissures; small nose; anteverted nostrils; micrognathia; macroglossia; low set ears; lung hypoplasia; long philtrum
|
miscellaneous |
12533808 15065102 |
| UROS |
263700 |
Alkaline-phosphatase-abnormal |
elevated
|
miscellaneous |
15065102 |
| UROS |
263700 |
Alpha-fetoprotein-abnormal |
elevated; maternal serum alpha fetoprotein levels abnormal
|
miscellaneous |
15065102 |
