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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

1879 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive hereditary disorder est un(e) (attribut) Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Combined immunodeficiency due to interleukin 21 receptor deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Beta-mercaptolactate cysteine disulfiduria (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Familial mesial temporal lobe epilepsy with febrile seizures (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Adult-onset autosomal recessive cerebellar ataxia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Muscle eye brain disease with bilateral multicystic leukodystrophy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cobblestone lissencephaly without muscular or ocular involvement (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile-onset autosomal recessive non progressive cerebellar ataxia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 24 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Obesity due to leptin receptor gene deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital muscular dystrophy type 1A est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Short chain acyl-coenzyme A dehydrogenase deficiency (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Amyotonia congenita est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pendred's syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Leprechaunism syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Galactosylceramide beta-galactosidase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Oguchi's disease est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hennekam syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Total intestinal aganglionosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de Schwartz-Jampel (trouble) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Juvenile hyaline fibromatosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Odontotrichomelic syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Atelosteogenesis type 2 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pseudodiastrophic dysplasia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Saldino-Mainzer dysplasia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Desbuquois syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de François est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Metachromatic leukodystrophy, adult type est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Oligohydramnios sequence est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Gelatinous droplike corneal dystrophy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Brachyolmia - Maroteaux type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Blomstrand dysplasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Raine dysplasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive familial woolly hair est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive pseudoxanthoma elasticum (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome, recessive type 4 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Jarcho-Levin syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
achromatopsie (trouble) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
nanisme à tête d'oiseau est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Diastrophic dysplasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de Werner (trouble) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Grebe syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Acrofrontofacionasal dysostosis type 2 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome, dominant type 4 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de Marinesco-Sjögren est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Dyggve-Melchior-Clausen syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Focal facial dermal dysplasia type IV (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
SPOAN and SPOAN-related disorder est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Woodhouse Sakati syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
GM1 gangliosidosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
amélogénèse imparfaite de type hypomaturation pigmentée est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive progressive external ophthalmoplegia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deafness and oligodontia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Diffuse mesangial sclerosis with ocular abnormalities est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome amélogenèse imparfaite-néphrocalcinose est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Renal dysplasia and retinal aplasia est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
acidose tubulaire rénale avec surdité de perception progressive est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Immotile cilia syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cystic fibrosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cholestasis-edema syndrome, Norwegian type est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Selective malabsorption of cyanocobalamin est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
diabète sucré et diabète insipide avec atrophie optique et surdité est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary xanthinuria type 1 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
von Willebrand disease type 3 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
von Willebrand disease type 2N est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive optic atrophy type 6 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Benign intrahepatic cholestasis type 1 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Severe childhood autosomal recessive muscular dystrophy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Bartter syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ateliotic dwarfism without insulinopenia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary sensory autonomic neuropathy type IIA est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary sensory autonomic neuropathy type IIB (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hyperphosphataemic familial tumoural calcinosis est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Syndrome of apparent mineralocorticoid excess est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Perinatal lethal Gaucher disease (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Roberts-SC phocomelia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Familial pulmonary capillary haemangiomatosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
lymphohistiocytose familiale est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Papuloverrucous palmoplantar keratoderma of Jakac-Wolf est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency type 1 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Short rib polydactyly syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency type 2 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Lethal Kniest-like syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Otospondylomegaepiphyseal dysplasia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Acroerythrokeratoderma est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Rolland-Debuqois syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some

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