85995004: Autosomal recessive hereditary disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder

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

Descriptions:

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
syndrom med hypospadi, hypertelorism, kolobom och dövhet	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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Id	Description	Lang	Type	Status	Case?	Module
142575014	Recessive hereditary disorder, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
142576010	Hereditary disorder trait, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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
2599051000052111	autosomalt recessiv ärftlig sjukdom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)