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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
Oguchi's disease (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Total intestinal aganglionosis (disorder) 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 leukodystrophy, adult type Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Oligohydramnios sequence Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Gelatinous droplike corneal dystrophy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Brachyolmia - Maroteaux type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Blomstrand dysplasia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Raine dysplasia (disorder) 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 (disorder) 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
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) 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 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Dyggve-Melchior-Clausen syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Focal facial dermal dysplasia type IV (disorder) 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 (disorder) 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-edema 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
Wolfram syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary xanthinuria type 1 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary von Willebrand disease type 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary von Willebrand disease type 2N (disorder) 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 (disorder) 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 (disorder) 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 (disorder) 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 hemophagocytic lymphohistiocytosis (disorder) 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 (disorder) 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
Acrocardiofacial syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pachydermoperiostosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive Robinow syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Bilateral frontoparietal polymicrogyria (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital muscular dystrophy type 1D large gene mutation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type 1i Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Type 3 lissencephaly Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Phenylketonuria due to tetrahydrobiopterin deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Rothmund Thomson syndrome type 1 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Rothmund Thomson syndrome type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Stickler syndrome type 4 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Wrinkly skin syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile systemic hyalinosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Polyglandular autoimmune syndrome, type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acute neuronopathic Gaucher's disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital secretory diarrhea, chloride type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Vanishing white matter disease (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hemoglobin C beta thalassemia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Citrullinemia type I (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Curry-Hall syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive cerebellar ataxia with hypogonadism Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary dysautonomia with motor neuropathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some

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