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

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