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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

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
Aicardi Goutieres syndrome type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Aicardi Goutieres syndrome type 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Aicardi Goutieres syndrome type 4 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Aicardi Goutieres syndrome type 5 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mucopolysaccharidosis-like plus disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Stromme syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sugarman brachydactyly (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
SLC39A8 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Isolated generalized anhidrosis with normal sweat glands Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, epilepsy, extrapyramidal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
VPS11-related autosomal recessive hypomyelinating leukodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Seizures, scoliosis, macrocephaly syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive hereditary spastic paraplegia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glycogen storage disease due to aldolase A deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe autosomal recessive macrothrombocytopenia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of galactose mutarotase Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial phosphate carrier deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 28 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Basel Vanagaite Smirin Yosef syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sanjad Sakati syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive isolated optic atrophy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Amish nemaline myopathy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to DOCK8 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive dysgenesis of anterior segment of eye Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Susceptibility to infection due to tyrosine kinase 2 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency, enteropathy spectrum Is a True Autosomal recessive hereditary disorder Inferred relationship Some
QRSL1-related combined oxidative phosphorylation defect Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Primary immunodeficiency with multifaceted aberrant lymphoid immunity Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Dedicator of cytokinesis 2 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Susceptibility to localized juvenile periodontitis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial chylomicronemia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive amyotrophic lateral sclerosis type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
CIDEC-related familial partial lipodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
LIPE-related familial partial lipodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
COG2-related congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive central core disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Juvenile amyotrophic lateral sclerosis (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital fiber-type disproportion myopathy due to ZAK mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lymphedema, posterior choanal atresia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Eye defects, arachnodactyly, cardiopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism type II Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive cerebello-cerebral atrophy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Gitelman syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital autosomal recessive small-platelet thrombocytopenia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fever-associated acute infantile liver failure syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Transmembrane protein 199 congenital disorder of glycosylation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement Is a True Autosomal recessive hereditary disorder Inferred relationship Some
4H leukodystrophy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progeroid features, hepatocellular carcinoma predisposition syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebral ventriculomegaly, cystic kidney disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial pyruvate carrier deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebellar ataxia with oculomotor apraxia type 4 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe myopia, generalized joint laxity, short stature syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive familial isolated hypoparathyroidism Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Ocular motor apraxia Cogan type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Primary dystonia DYT27 type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fetal encasement syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Isolated neonatal sclerosing cholangitis (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Nephronophthisis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
RARS-related autosomal recessive hypomyelinating leucodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Giant axonal neuropathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Auditory neuropathy, optic atrophy syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Prune exopolyphosphatase 1-related neurological syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset calcifying leucoencephalopathy, skeletal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neonatal epileptic encephalopathy due to glutaminase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
3-methylglutaconic aciduria type 9 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some

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