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85995004: Autosomal recessive hereditary disorder (disorder)

Status: current. Date: 31-Jan 2002

Descriptions:

Id Description Lang Type Status Case? Module
142575014 Recessive hereditary disorder, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
142576010 Hereditary disorder trait, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
201251014 Recessive hereditary disorder (autosomal) en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
201252019 Hereditary disorder trait (autosomal) en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
201253012 Autosomal recessive hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
828165010 Autosomal recessive hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

51 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive hereditary disorder Is a Autosomal hereditary disorder true Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Inbound Relationships Type Active Source Characteristic Refinability Group
Acute infantile liver failure with multisystemic involvement syndrome Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Glycogen storage disease, type I Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Joubert syndrome (disorder) Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Transient infantile hypertriglyceridemia and hepatosteatosis Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Navajo neurohepatopathy Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Cholestasis-edema syndrome, Norwegian type Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Cystic fibrosis Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Citrin deficiency (disorder) Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Fever-associated acute infantile liver failure syndrome (disorder) Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder) Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Familial hypercholanemia (disorder) Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Dubin-Johnson syndrome Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Hepatic glycogen synthase deficiency (disorder) Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Alpha-1-antitrypsin deficiency Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Progressive intrahepatic cholestasis Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Retinohepatoendocrinologic syndrome (disorder) Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Glycogen storage disease, type VI Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Growth retardation, mild developmental delay, chronic hepatitis syndrome Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Alpha-methylacyl-CoA racemase deficiency disorder Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Cholestanol storage disease Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Growth delay, intellectual disability, hepatopathy syndrome Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Benign intrahepatic cholestasis type 1 Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Delta-4-3-oxosteroid-5-beta-reductase deficiency Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Wilson's disease Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Nephronophthisis Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Crigler-Najjar syndrome, type I Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Renal hepatic pancreatic dysplasia (disorder) Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Caroli syndrome Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Congenital bile acid synthesis defect type 3 (disorder) Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
NPHP3-related Meckel-like syndrome Is a True Autosomal recessive hereditary disorder Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly

This concept is not in any reference sets

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