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85995004: Autosomal recessive hereditary disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

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

2088 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 Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Galactose epimerase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of galactokinase (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fanconi anemia of complementation group C Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lucey-Driscoll syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of Xaa-Pro dipeptidase Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Atypical Krabbe disease due to saposin A deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neuronal ceroid lipofuscinosis type 6A (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive hereditary arginine vasopressin resistance (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive hereditary arginine vasopressin deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary butyrylcholinesterase deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive agammaglobulinemia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
KLHL7-related Bohring Opitz-like syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 11 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 12 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 13 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 14 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloenchondrodysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Citrullinemia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Dysequilibrium syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Tyrosinemia type I (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Maternal phenylketonuria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glutaryl-CoA oxidase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
2-methylbutyryl-coenzyme A dehydrogenase deficiency disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glutaryl-CoA dehydrogenase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
AMeD syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Kindler epidermolysis bullosa (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to FCHO1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glucose-galactose malabsorption Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined immunodeficiency due to inducible T cell costimulator deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined immunodeficiency due to inducible T-cell costimulator ligand deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive common variable immunodeficiency due to CD81 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined immunodeficiency due to interleukin 6 receptor deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined immunodeficiency due to partial interleukin 6 cytokine family signal transducer deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined immunodeficiency due to DNA polymerase delta 1 catalytic subunit mutation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined immunodeficiency due to DNA polymerase delta 2 accessory subunit mutation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined immunodeficiency due to minichromosome maintenance complex component 10 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Major histocompatibility complex class I deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Major histocompatibility complex class II deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined immunodeficiency due to RELB proto-oncogene, NF-kB subunit mutation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined immunodeficiency due to COPI coat complex subunit gamma 1 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined immunodeficiency due to CD28 mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined immunodeficiency due to Wiskott Aldrich syndrome protein-interacting protein deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined immunodeficiency due to REL mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined immunodeficiency due to BCL10 mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined immunodeficiency due to CHUK mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined immunodeficiency due to ITPKB mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined immunodeficiency due to paired box 1 mutation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Alkuraya Kucinskas syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, early-onset cataract, microcephaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined immunodeficiency due to mannosidase alpha class 2B member 2 mutation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive common variable immunodeficiency due to membrane spanning 4-domains A1 mutation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive common variable immunodeficiency due to CD21 mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined variable immunodeficiency due to B cell-activating factor receptor mutation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined variable immunodeficiency due to ARHGEF1 mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive common variable immunodeficiency due to POU class 2 homeobox associating factor 1 mutation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive deoxyribonucleic acid repair defect due to DNA polymerase epsilon 2, accessory subunit deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive deoxyribonucleic acid repair defect due to DNA ligase 1 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lung disease, immunodeficiency, chromosome breakage syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive common variable immunodeficiency due to RAC2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth Neuropathy Type 4 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some

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