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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
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
Spinocerebellar ataxia with axonal neuropathy type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Dyssegmental dysplasia Silverman Handmaker type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Kandori fleck retina syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Oculocutaneous albinism type 1 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Carbamoyl-phosphate synthetase 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Familial glucocorticoid deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 45 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Trichoodontoonychial dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Diencephalic mesencephalic junction dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cono-spondylar dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 4 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 67 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined immunodeficiency due to OX40 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypomyelination neuropathy arthrogryposis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hemolytic anemia due to adenylate kinase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Susceptibility to respiratory infection associated with CD8alpha chain mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive congenital methemoglobinemia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypermanganesemia with dystonia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Leukoencephalopathy with mild cerebellar ataxia and white matter edema Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
N-glycanase 1 congenital disorder of deglycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Familial benign flecked retina Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive distal spinal muscular atrophy type 3 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism Alazami type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive chorioretinopathy and microcephaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism Dauber type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Vasculitis due to adenosine deaminase 2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Chuvash erythrocytosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 58 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Benign Samaritan congenital myopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
T-cell immunodeficiency due to ras homolog family member H deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Distal muscular dystrophy, Miyoshi type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly, thin corpus callosum, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
2p21 microdeletion syndrome without cystinuria Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Proximal myopathy with extrapyramidal signs Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Sinoatrial node dysfunction and deafness Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 70 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Developmental delay with autism spectrum disorder and gait instability Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Huntington disease-like 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Alopecia, progressive neurological defect, endocrinopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cortical dysplasia with focal epilepsy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Rhizomelic syndrome Urbach type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Leukoencephalopathy, palmoplantar keratoderma syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary motor and sensory neuropathy with acrodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ectrodactyly polydactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hallux varus, preaxial polysyndactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Kostmann syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pilodental dysplasia, refractive errors syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Polymicrogyria with optic nerve hypoplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Progressive polyneuropathy with bilateral striatal necrosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease type 2B5 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Digital extensor muscle aplasia with polyneuropathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive lymphoproliferative disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Axial spondylometaphyseal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Teebi Shaltout syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with integrin alpha-7 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive lower motor neuron disease with childhood onset Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ectodermal dysplasia syndactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Methylmalonic aciduria due to transcobalamin receptor defect Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive infantile hypercalcemia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Laminin subunit beta 2 related infantile-onset nephrotic syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Complement component 3 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Jawad syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Young adult-onset distal hereditary motor neuropathy Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined immunodeficiency due to serine/threonine kinase 4 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital nephrotic syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
RAB18, member RAS oncogene family deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Poikiloderma with neutropenia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome spondylocheirodysplastic type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Postaxial polydactyly, dental, vertebral anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Thakker Donnai syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia Genevieve type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Zechi Ceide syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier

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