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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
142575014 Recessive hereditary disorder, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
142576010 Hereditary disorder trait, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
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
Progressive myoclonic epilepsy with dystonia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de déficience intellectuelle-obésité-malformations cérébrales-dysmorphie faciale est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spectrin-associated autosomal recessive cerebellar ataxia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebrofacioarticular syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 48 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 5A est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 28 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Ichthyosis prematurity syndrome est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
forme létale du syndrome des ptérygiums multiples (trouble) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Distal hereditary motor neuropathy Jerash type est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de mèches blanches et anomalies multiples est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lichtenstein syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypermethioninemia due to deficiency of glycine N-methyltransferase est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Macrocephaly and developmental delay syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome oculo-auriculaire type Schorderet est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Oro-facial digital syndrome type 14 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pachygyria, intellectual disability, epilepsy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
petite taille-retard d'âge osseux par déficit du métabolisme de l'hormone thyroïdienne est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Renal hepatic pancreatic dysplasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Myosclerosis (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Primary intraosseous venous malformation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Wooly hair with palmoplantar keratoderma syndrome est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Action myoclonus renal failure syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia anauxetic type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Familial isolated trichomegaly est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 15 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 35 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de microduplication 7p22.1 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 21 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 43 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
3-methylglutaconic aciduria type 7 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 2 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital muscular dystrophy type 1B est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Constitutional mismatch repair deficiency syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 62 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spinocerebellar ataxia with axonal neuropathy type 1 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
dysplasie dyssegmentaire type Silverman-Handmaker est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Kandori fleck retina syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Oculocutaneous albinism type 1 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Carbamoyl-phosphate synthetase 1 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Familial glucocorticoid deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome d'anémie sidéroblastique congénitale, déficit immunitaire à cellules B-fièvre périodique, retard de développement est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 45 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Trichoodontoonychial dysplasia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Diencephalic mesencephalic junction dysplasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cono-spondylar dysplasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 4 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
paraplégie spastique autosomique récessive type 67 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypomyelination neuropathy arthrogryposis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hemolytic anemia due to adenylate kinase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Susceptibility to respiratory infection associated with CD8alpha chain mutation est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Double heterozygous familial hypercholesterolaemia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive congenital methemoglobinemia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypermanganesemia with dystonia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
CLCN2-related leukoencephalopathy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
N-glycanase 1 congenital disorder of deglycosylation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Familial benign flecked retina est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive distal spinal muscular atrophy type 3 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism Alazami type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism Dauber type est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Vasculitis due to adenosine deaminase 2 deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Chuvash erythrocytosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 58 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Benign Samaritan congenital myopathy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
T-cell immunodeficiency with epidermodysplasia verruciformis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Distal muscular dystrophy, Miyoshi type est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
2p21 microdeletion syndrome without cystinuria (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Proximal myopathy with extrapyramidal signs est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Sinoatrial node dysfunction and deafness est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
paraplégie spastique autosomique récessive type 70 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some

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