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85995004: Autosomal recessive hereditary disorder (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
142575014 Recessive hereditary disorder, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
142576010 Hereditary disorder trait, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
201251014 Recessive hereditary disorder (autosomal) en Synonym Active Entire term case insensitive SNOMED CT core module
201252019 Hereditary disorder trait (autosomal) en Synonym Active Entire term case insensitive SNOMED CT core module
201253012 Autosomal recessive hereditary disorder en Synonym Active Entire term case insensitive SNOMED CT core module
828165010 Autosomal recessive hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1931 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 Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Oguchi's disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hennekam lymphangiectasia-lymphedema syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Total intestinal aganglionosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Schwartz-Jampel syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Juvenile hyaline fibromatosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Odontotrichomelic syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Atelosteogenesis type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pseudodiastrophic dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Saldino-Mainzer dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Desbuquois syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Francois syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Metachromatic leukodystrophy, adult type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Oligohydramnios sequence Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Gelatinous droplike corneal dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Brachyolmia - Maroteaux type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Blomstrand dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Raine dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive familial wooly hair Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive pseudoxanthoma elasticum Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome, recessive type 4 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Jarcho-Levin syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Achromatopsia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Seckel syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Diastrophic dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Werner syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Diaphragmatic hernia, abnormal face and distal limb anomalies Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Grebe syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Short rib-polydactyly syndrome, Majewski type Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Metaphyseal chondrodysplasia, McKusick type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Acrofrontofacionasal dysostosis type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome, dominant type 4 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Marinesco-Sjögren syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Dyggve-Melchior-Clausen syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Focal facial dermal dysplasia type IV Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spastic paraplegia, optic atrophy, neuropathy and spastic paraplegia, optic atrophy neuropathy-related disorder Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Diabetes, hypogonadism, deafness, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
GM1 gangliosidosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Amelogenesis imperfecta, pigmented hypomaturation type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive progressive external ophthalmoplegia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Deafness and oligodontia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Diffuse mesangial sclerosis with ocular abnormalities Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Enamel-renal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Renal dysplasia and retinal aplasia Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Renal tubular acidosis with progressive nerve deafness Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Immotile cilia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cystic fibrosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cholestasis-edema syndrome, Norwegian type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Selective malabsorption of cyanocobalamin Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Diabetes mellitus AND insipidus with optic atrophy AND deafness Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary xanthinuria type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary von Willebrand disease type 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary von Willebrand disease type 2N Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive optic atrophy type 6 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Benign intrahepatic cholestasis type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Severe childhood autosomal recessive muscular dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Bartter syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary sensory autonomic neuropathy type IIA Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary sensory autonomic neuropathy type IIB Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hyperphosphatemic familial tumoral calcinosis Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Syndrome of apparent mineralocorticoid excess Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Perinatal lethal Gaucher disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Roberts-SC phocomelia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Familial pulmonary capillary hemangiomatosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Familial hemophagocytic lymphohistiocytosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Papuloverrucous palmoplantar keratoderma of Jakac-Wolf Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Alpha-N-acetylgalactosaminidase deficiency type 1 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Short rib polydactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Alpha-N-acetylgalactosaminidase deficiency type 2 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Alpha-N-acetylgalactosaminidase deficiency type 3 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lethal Kniest-like syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Otospondylomegaepiphyseal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Acroerythrokeratoderma Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Rolland-Debuqois syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Acrocardiofacial syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pachydermoperiostosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive Robinow syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Bilateral frontoparietal polymicrogyria Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital muscular dystrophy type 1D large gene mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1i Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Type 3 lissencephaly Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Phenylketonuria due to tetrahydrobiopterin deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Rothmund Thomson syndrome type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Rothmund Thomson syndrome type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Stickler syndrome type 4 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Wrinkly skin syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Infantile systemic hyalinosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Polyglandular autoimmune syndrome, type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Acute neuronopathic Gaucher's disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital secretory diarrhea, chloride type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Vanishing white matter disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hemoglobin C beta thalassemia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Citrullinemia type I Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Curry-Hall syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Progressive cerebellar ataxia with hypogonadism Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary dysautonomia with motor neuropathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier

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