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85995004: Autosomal recessive hereditary disorder (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
201251014 Recessive hereditary disorder (autosomal) en Synonym Active Case insensitive SNOMED CT core
201252019 Hereditary disorder trait (autosomal) en Synonym Active Case insensitive SNOMED CT core
201253012 Autosomal recessive hereditary disorder en Synonym Active Case insensitive SNOMED CT core
828165010 Autosomal recessive hereditary disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core

1928 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
Moderate steroid 21-hydroxylase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Porcine stress syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Familial acantholysis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Purine-nucleoside phosphorylase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Urocanate hydratase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Proline dehydrogenase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Muscle phosphoglycerate mutase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
HNSHA due to diphosphoglycerate mutase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital hyperammonaemia, type I Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Cholestanol storage disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glycine dehydrogenase (decarboxylating) deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Alstrom syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
5-aminolevulinic acid dehydratase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ethanolaminosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Werdnig-Hoffmann disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fucosidosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sarcosine dehydrogenase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of hydroxymethylglutaryl-CoA lyase Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of histidine ammonia-lyase Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of methylmalonyl-CoA mutase Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Homogentisate 1,2-dioxygenase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of proline dipeptidase Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sitosterolaemia with xanthomatosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mannosidosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cytochrome-c oxidase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Aminomethyltransferase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Histidine ammonia-lyase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Maroteaux-Lamy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Proline dipeptidase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
I-cell disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary adrenal unresponsiveness to corticotropin Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pancreatic enterokinase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Hydroxymethylglutaryl-CoA lyase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Isolated xanthine oxidase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Tyrosinaemia type III Is a True Autosomal recessive hereditary disorder Inferred relationship Some
HNSHA (hereditary nonspherocytic haemolytic anaemia) due to pyruvate kinase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mucopolysaccharidosis, MPS-I Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial renal iminoglycinuria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Classical phenylketonuria Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Neonatal pseudo-hydrocephalic progeroid syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Dihydrouracil dehydrogenase (NADP^+^) deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sucrase-isomaltase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Gamma-glutamyl transpeptidase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive ocular albinism Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pancreatic triacylglycerol lipase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ichthyosis linearis circumflexa Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Ataxia-telangiectasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial hypokalaemic alkalosis, Gullner type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Wolman's disease Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Laron-type isolated somatotropin defect Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal dominant hyper-IgE syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive SCID (severe combined immunodeficiency disease) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Trehalase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Pyruvate carboxylase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Isovaleryl-CoA dehydrogenase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Biotinidase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Sanfilippo syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Zellweger syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Wilson's disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Crigler-Najjar syndrome, type I Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Muscle AMP deaminase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pseudohypoaldosteronism, type 1, recessive form Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mandibuloacral dysostosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glycogen storage disease, type I Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lipoprotein glomerulopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Testicular tumour of adrenogenital syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Laurence-Moon syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Peters plus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Arterial tortuosity syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Essential pentosuria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ultraviolet sensitive syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
21-hydroxylase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
2-hydroxyglutaric aciduria Is a False Autosomal recessive hereditary disorder Inferred relationship Some
North American Indian childhood cirrhosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Myopathy with deficiency of iron-sulfur cluster assembly enzyme Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neutral lipid storage disease with myopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Myoclonic epilepsy myopathy sensory ataxia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Brown-Vialetto-Van Laere syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Interleukin-1 receptor-associated kinase 4 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
EAST (Epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Hyperphosphatasaemia with intellectual disability Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive idiopathic familial dystonia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital leptin deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Alpha-methylacyl-CoA racemase deficiency disorder Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sensorineural deafness and male infertility Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Tetra-amelia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive myoclonus epilepsy with ataxia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
3-M syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Early onset myopathy with fatal cardiomyopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondylocarpotarsal synostosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Persistent Müllerian duct syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cold-induced sweating syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Chylomicron retention disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined malonic and methylmalonic aciduria Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Childhood myocerebrohepatopathy spectrum Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypermanganesemia with dystonia, polycythaemia, and cirrhosis Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Hypomyelination and congenital cataract Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Horizontal gaze palsy with progressive scoliosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Inclusion body myopathy 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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