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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
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

2021 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

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