Isolated neonatal sclerosing cholangitis
- Synonyms
- Sclerosing cholangitis, neonatal
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (25 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Elevated gamma-glutamyltransferase level
Elevated gamma-glutamyltransferase level
- MedGen UID: 1370086
- Concept ID: C4476869
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated gamma-glutamyltransferase level
- Abnormality of the cardiovascular system
- Portal hypertension
Portal hypertension
- MedGen UID: 9375
- Concept ID: C0020541
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Portal hypertension
- Abnormality of the digestive system
- Acholic stools
Acholic stools
- MedGen UID: 436478
- Concept ID: C2675627
- Finding: Finding
Abnormality of the digestive system
- Ascites
Ascites
- MedGen UID: 416
- Concept ID: C0003962
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Bile duct proliferation
Bile duct proliferation
- MedGen UID: 120603
- Concept ID: C0267818
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Biliary cirrhosis
Biliary cirrhosis
- MedGen UID: 44182
- Concept ID: C0023892
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Cholestasis
Cholestasis
- MedGen UID: 925
- Concept ID: C0008370
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Cirrhosis of liver
Cirrhosis of liver
- MedGen UID: 7368
- Concept ID: C0023890
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Ductal bile plugs
Ductal bile plugs
- MedGen UID: 1815056
- Concept ID: C5706150
- Finding: Finding
Abnormality of the digestive system
- Hepatic bridging fibrosis
Hepatic bridging fibrosis
- MedGen UID: 868315
- Concept ID: C4022709
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Jaundice
Jaundice
- MedGen UID: 43987
- Concept ID: C0022346
- Finding: Sign or Symptom
Abnormality of the digestive system
- Liver failure
Liver failure
- MedGen UID: 88444
- Concept ID: C0085605
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Portal fibrosis
Portal fibrosis
- MedGen UID: 893107
- Concept ID: C3805083
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Acholic stools
- Abnormality of the genitourinary system
- Vesicoureteral reflux
Vesicoureteral reflux
- MedGen UID: 21852
- Concept ID: C0042580
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Vesicoureteral reflux
- Abnormality of the immune system
- Sclerosing cholangitis
Sclerosing cholangitis
- MedGen UID: 3036
- Concept ID: C0008313
- Finding: Disease or Syndrome
Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Sclerosing cholangitis
- Abnormality of the integument
- Pruritus
Pruritus
- MedGen UID: 19534
- Concept ID: C0033774
- Finding: Sign or Symptom
Abnormality of the integument
- Pruritus
- Abnormality of the nervous system
- Intellectual disability, mild
Intellectual disability, mild
- MedGen UID: 10044
- Concept ID: C0026106
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability, mild
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
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