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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
142575014 Recessive hereditary disorder, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
142576010 Hereditary disorder trait, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
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
Combined immunodeficiency due to interleukin 21 receptor deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Beta-mercaptolactate cysteine disulfiduria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial mesial temporal lobe epilepsy with febrile seizures Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Adult-onset autosomal recessive cerebellar ataxia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cobblestone lissencephaly without muscular or ocular involvement Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile-onset autosomal recessive non progressive cerebellar ataxia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 24 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Obesity due to leptin receptor gene deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital muscular dystrophy type 1A Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
ANK3-related intellectual disability, sleep disturbance syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Short chain acyl-CoA dehydrogenase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Amyotonia congenita Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pendred's syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Leprechaunism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Galactosylceramide beta-galactosidase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oguchi's disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hennekam syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Total intestinal aganglionosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Schwartz-Jampel syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Juvenile hyaline fibromatosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Odontotrichomelic syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Atelosteogenesis type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pseudodiastrophic dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Saldino-Mainzer dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Desbuquois syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Francois syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Metachromatic leucodystrophy, adult type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oligohydramnios sequence Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Gelatinous droplike corneal dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Brachyolmia - Maroteaux type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Blomstrand dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Raine dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive familial woolly hair Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive pseudoxanthoma elasticum Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome, recessive type 4 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Jarcho-Levin syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Achromatopsia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Seckel syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Diastrophic dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Werner syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fryns syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Grebe syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acrofrontofacionasal dysostosis type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome, dominant type 4 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Marinesco-Sjögren syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Dyggve-Melchior-Clausen syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Moynahan syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Focal facial dermal dysplasia type IV Is a True Autosomal recessive hereditary disorder Inferred relationship Some
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
SPOAN and SPOAN-related disorder Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Woodhouse Sakati syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
GM1 gangliosidosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Amelogenesis imperfecta, pigmented hypomaturation type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive progressive external ophthalmoplegia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deafness and oligodontia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Diffuse mesangial sclerosis with ocular abnormalities Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Enamel-renal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Renal dysplasia and retinal aplasia Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Renal tubular acidosis with progressive nerve deafness Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Immotile cilia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cystic fibrosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cholestasis-oedema syndrome, Norwegian type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Selective malabsorption of cyanocobalamin Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Diabetes mellitus AND insipidus with optic atrophy AND deafness Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary xanthinuria type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
von Willebrand disease type 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
von Willebrand disease type 2N Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive optic atrophy type 6 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Benign intrahepatic cholestasis type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe childhood autosomal recessive muscular dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Bartter syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ateliotic dwarfism without insulinopenia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary sensory autonomic neuropathy type IIA Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary sensory autonomic neuropathy type IIB Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hyperphosphataemic familial tumoural calcinosis Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Syndrome of apparent mineralocorticoid excess Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Perinatal lethal Gaucher disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Roberts-SC phocomelia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial pulmonary capillary haemangiomatosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial haemophagocytic lymphohistiocytosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Papuloverrucous palmoplantar keratoderma of Jakac-Wolf Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency type 1 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Short rib polydactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency type 2 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency type 3 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Lethal Kniest-like syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Otospondylomegaepiphyseal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acroerythrokeratoderma Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Rolland-Debuqois syndrome 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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