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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

1879 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive hereditary disorder est un(e) (attribut) Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebellar ataxia with oculomotor apraxia type 4 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Severe myopia, generalized joint laxity, short stature syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive familial isolated hypoparathyroidism (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ocular motor apraxia Cogan type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Primary dystonia DYT27 type est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Fetal encasement syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Isolated neonatal sclerosing cholangitis (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Nephronophthisis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
RARS-related autosomal recessive hypomyelinating leucodystrophy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Giant axonal neuropathy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Auditory neuropathy, optic atrophy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Prune exopolyphosphatase 1-related neurological syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset calcifying leucoencephalopathy, skeletal dysplasia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Neonatal epileptic encephalopathy due to glutaminase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
3-methylglutaconic aciduria type 9 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 24 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Syndromic congenital sodium diarrhoea est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Polyglucosan body myopathy type 2 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive myoclonic epilepsy type 9 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Complex lethal osteochondrodysplasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
PCNA-related progressive neurodegenerative photosensitivity syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Glucagon receptor-related hyperglucagonemia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal brain and heart developmental defects syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Heme oxygenase-1 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Familial congenital nasolacrimal duct obstruction (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Frontorhiny (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Phenylketonuria (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Megaconial congenital muscular dystrophy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
CNTNAP2-related developmental and epileptic encephalopathy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mannosephosphate isomerase congenital disorder of glycosylation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital isolated adrenocorticotropic hormone deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hemoglobin E/beta thalassemia disease est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Goldmann-Favre syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary methemoglobinemia, enzymatic type est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of AMP pyrophorylase est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Medium-chain acyl-coenzyme A dehydrogenase deficiency est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Cystinosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive severe combined immunodeficiency est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Butyrylcholinesterase deficiency est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive hypophosphatemic bone disease est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Transcobalamin II deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Familial chronic mucocutaneous candidiasis - recessive type est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Methylcrotonyl-CoA carboxylase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Geroderma osteodysplastica est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Propionyl-CoA carboxylase deficiency est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Childhood hypophosphatasia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Alpha-1-antitrypsin deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hepatic fructokinase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Glucocorticoid deficiency with achalasia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
hypophosphatasie infantile (trouble) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Alkaptonuria (finding) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Adenylosuccinate lyase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Biotin-(propionyl-CoA-carboxylase) ligase deficiency est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Bovine hereditary syndactyly (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Jervell and Lange-Nielsen syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Severe steroid 21-hydroxylase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive asexual dwarfism est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Iodotyrosine deiodination defect est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Primary hyperoxaluria est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Fructose-1,6-bisphosphate aldolase B deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Beta-aminoisobutyric aciduria (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Arginase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cystathionine beta-synthase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Galactosylceramide lipidosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
déficit en 5-oxoprolinase (trouble) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Chorea acanthocytosis syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Westphal-Strumpell syndrome est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
cétoacidurie à chaines ramifiées est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pyle metaphyseal dysplasia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Fructose-biphosphatase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Methylmalonyl-CoA mutase deficiency est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Wilson's disease * est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
maladie de stockage du glycogène (trouble) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Acetyl-CoA: acyltransferase deficiency est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloenchondromatosis (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Giacci familial neurogenic acroosteolysis (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Testicular tumor of adrenogenital syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some

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