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85995004: Autosomal recessive hereditary disorder (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
201251014 Recessive hereditary disorder (autosomal) en Synonym Active Entire term case insensitive SNOMED CT core module
201252019 Hereditary disorder trait (autosomal) en Synonym Active Entire term case insensitive SNOMED CT core module
201253012 Autosomal recessive hereditary disorder en Synonym Active Entire term case insensitive SNOMED CT core module
828165010 Autosomal recessive hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1931 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 Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Aicardi Goutieres syndrome type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Aicardi Goutieres syndrome type 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Aicardi Goutieres syndrome type 4 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Aicardi Goutieres syndrome type 5 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mucopolysaccharidosis-like plus disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Stromme syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Sugarman brachydactyly Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Solute carrier family 39 member 8 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Coiled-coil domain containing 115 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Isolated generalized anhidrosis with normal sweat glands Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcephalic cortical malformations, short stature due to rotatin deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, epilepsy, extrapyramidal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Seizures, scoliosis, macrocephaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive hereditary spastic paraplegia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Glycogen storage disease due to aldolase A deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Severe autosomal recessive macrothrombocytopenia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Deficiency of galactose mutarotase Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Phosphoglucomutase 3-related congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mitochondrial phosphate carrier deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 28 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Basel Vanagaite Smirin Yosef syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Sanjad Sakati syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive isolated optic atrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Amish nemaline myopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined immunodeficiency due to dedicator of cytokinesis 8 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive dysgenesis of anterior segment of eye Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Susceptibility to infection due to tyrosine kinase 2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined immunodeficiency, enteropathy spectrum Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Primary immunodeficiency with multifaceted aberrant lymphoid immunity Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Dedicator of cytokinesis 2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Susceptibility to localized juvenile periodontitis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Familial chylomicronemia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive amyotrophic lateral sclerosis type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lethal neonatal spasticity, epileptic encephalopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cell death inducing DFFA like effector C-related familial partial lipodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lipase E, hormone sensitive type-related familial partial lipodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Component of oligomeric golgi complex 2-related congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive central core disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Juvenile amyotrophic lateral sclerosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital fiber-type disproportion myopathy due to ZAK mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lymphedema, posterior choanal atresia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Severe oculo-renal-cerebellar syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Eye defects, arachnodactyly, cardiopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcephalic osteodysplastic primordial dwarfism type II Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Progressive cerebello-cerebral atrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Gitelman syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital autosomal recessive small-platelet thrombocytopenia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Fever-associated acute infantile liver failure syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Transmembrane protein 199 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
4H leukodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Progeroid features, hepatocellular carcinoma predisposition syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cerebral ventriculomegaly, cystic kidney disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mitochondrial pyruvate carrier deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cerebellar ataxia with oculomotor apraxia type 4 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Phospholipase A2 activating protein-associated neurodevelopmental disorder Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Severe myopia, generalized joint laxity, short stature syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive familial isolated hypoparathyroidism Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ocular motor apraxia Cogan type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Primary dystonia type 27 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Component of oligomeric golgi complex 6-congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Fetal encasement syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Isolated neonatal sclerosing cholangitis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Nephronophthisis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism, insulin resistance syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Giant axonal neuropathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Auditory neuropathy, optic atrophy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Prune exopolyphosphatase 1-related neurological syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Early-onset calcifying leukoencephalopathy, skeletal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Neonatal epileptic encephalopathy due to deficiency of glutaminase Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
3-methylglutaconic aciduria type 9 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier

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