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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
Carbohydrate deficient glycoprotein syndrome type 2a Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Laron syndrome with immunodeficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Keratin 14 related epidermolysis bullosa simplex Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Keutel syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Junctional epidermolysis bullosa non-Herlitz type Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Infantile osteopetrosis with neuroaxonal dysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Infantile onset spinocerebellar ataxia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Infantile choroidocerebral calcification syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 5 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypospadias, hypertelorism, coloboma, deafness syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary hypotrichosis with recurrent skin vesicles syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary combined deficiency of vitamin K-dependent clotting factors Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hepatic glycogen synthase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Muscle and heart glycogen synthase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Polysyndactyly and cardiac malformation syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1e Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1j Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Craniomicromelic syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Craniometadiaphyseal dysplasia wormian bone type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Craniolenticulosutural dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spastic paraplegia, optic atrophy, neuropathy syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive omodysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
5-amino-4-imidazole carboxamide ribosiduria Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Defect of purinergic receptor p2y G protein-coupled 12 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mucolipidosis type IV Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital muscular dystrophy Paradas type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia Beauce type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive faciodigitogenital syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcephalic osteodysplastic primordial dwarfism types I and III Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive ataxia due to ubiquinone deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive muscular dystrophy not predominantly limb girdle Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Carbohydrate deficient glycoprotein syndrome type 2d Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability Buenos Aires type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Neurofaciodigitorenal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Coenzyme Q10 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pyridoxal 5-phosphate dependent epilepsy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Short rib polydactyly syndrome type I Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 32 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 26 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 23 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 64 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 63 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 61 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Weaver Williams syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Epileptic encephalopathy with global cerebral demyelination Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cataract, congenital heart disease, neural tube defect syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive amelia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Bone dysplasia lethal Holmgren type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Craniosynostosis fibular aplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cortical blindness, intellectual disability, polydactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Carbohydrate deficient glycoprotein syndrome type 2k Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Coenzyme A synthase protein associated neurodegeneration Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hydrocephalus, tall stature, joint laxity syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 18 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 25 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ectodermal dysplasia and sensorineural deafness syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Osteopenia, intellectual disability, sparse hair syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Branchial dysplasia, intellectual disability, inguinal hernia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Epilepsy telangiectasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
German syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Abetalipoproteinemia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Dermatoleukodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Encephalopathy, intracerebral calcification, retinal degeneration syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Dysmorphism, short stature, deafness, disorder of sex development syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Marfanoid habitus with autosomal recessive intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Absent tibia, polydactyly, arachnoid cyst syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Deafness, vitiligo, achalasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Thyrocerebrorenal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Duplication of eyebrow and syndactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1r Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1n Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1p Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Early-onset Lafora body disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcephalus, glomerulonephritis, marfanoid habitus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Leukoencephalopathy, dystonia, motor neuropathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spastic paraplegia, glaucoma, intellectual disability syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Jeune thoracic dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pseudoprogeria syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Acrocephalopolysyndactyly type II Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier

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