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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
Coenzyme Q10 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pyridoxal 5-phosphate dependent epilepsy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Short rib polydactyly syndrome type I (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 32 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 26 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 23 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 64 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 63 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 61 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Weaver Williams syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
encéphalopathie épileptique avec démyélinisation cérébrale généralisée est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive amelia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Bone dysplasia lethal Holmgren type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Craniosynostosis fibular aplasia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Carbohydrate deficient glycoprotein syndrome type 2k (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Coenzyme A synthase protein associated neurodegeneration (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
paraplégie spastique autosomique récessive type 18 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 25 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de dysplasie ectodermique-surdité neurosensorielle est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spinocerebellar ataxia dysmorphism syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de German est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Abetalipoproteinaemia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Dermatoleukodystrophy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Dysmorphism, short stature, deafness, disorder of sex development syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome marfanoïde-déficience intellectuelle autosomique récessif est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deafness, vitiligo, achalasia syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Thyrocerebrorenal syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Duplication of eyebrow and syndactyly syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Stimmler syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type 1r (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type 1n (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type 1p est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset Lafora body disease (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Leukoencephalopathy, dystonia, motor neuropathy syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spastic paraplegia, glaucoma, intellectual disability syndrome est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
dystrophie thoracique asphyxiante est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Acrocephalopolysyndactyly type II (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalus, digital anomaly, intellectual disability syndrome est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de Dandy-Walker-polydactylie postaxiale est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type 1w (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type 1x est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Acrocephalopolysyndactyly type IV (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 8 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type 1q (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Summitt syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
46,XX disorder of sex development with skeletal anomalies syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of alpha-ketoglutarate dehydrogenase (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pyridoxine-dependent epilepsy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Gorlin-Chaudhry-Moss syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Refetoff syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Peroxisome biogenesis disorder est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Isolated follicle stimulating hormone deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Classical cystic fibrosis (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Atypical cystic fibrosis (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Subclinical cystic fibrosis est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 13 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Grubben, De Cock, Borghgraef syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 15 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 7 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
déficit combiné de la phosphorylation oxydative type 9 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 21 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Conductive deafness, ptosis, skeletal anomalies syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome d'ataxie cérébelleuse autosomique récessive-signes pyramidaux-nystagmus-apraxie oculomotrice est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital myopathy with myasthenic-like onset (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Connective tissue disorder due to lysyl hydroxylase-3 deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia with late-onset spasticity est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive myoclonic epilepsy with dystonia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some

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