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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

2088 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 Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Spinocerebellar ataxia with axonal neuropathy type 1 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Dyssegmental dysplasia Silverman Handmaker type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Kandori fleck retina syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oculocutaneous albinism type 1 (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Carbamoyl-phosphate synthetase 1 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial glucocorticoid deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 45 (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Trichoodontoonychial dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Diencephalic mesencephalic junction dysplasia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cono-spondylar dysplasia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 4 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 67 (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to OX40 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypomyelination neuropathy arthrogryposis syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hemolytic anemia due to adenylate kinase deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Susceptibility to respiratory infection associated with CD8alpha chain mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Double heterozygous familial hypercholesterolaemia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive congenital methemoglobinemia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypermanganesemia with dystonia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
CLCN2-related leukoencephalopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
N-glycanase 1 congenital disorder of deglycosylation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial benign flecked retina Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive distal spinal muscular atrophy type 3 (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism Alazami type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism Dauber type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Vasculitis due to adenosine deaminase 2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Chuvash erythrocytosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 58 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Benign Samaritan congenital myopathy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
T-cell immunodeficiency with epidermodysplasia verruciformis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Distal muscular dystrophy, Miyoshi type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
2p21 microdeletion syndrome without cystinuria (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Proximal myopathy with extrapyramidal signs Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sinoatrial node dysfunction and deafness Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 70 (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Developmental delay with autism spectrum disorder and gait instability (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Huntington disease-like 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cortical dysplasia with focal epilepsy syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Rhizomelic syndrome Urbach type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Leukoencephalopathy, palmoplantar keratoderma syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary motor and sensory neuropathy with acrodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ectrodactyly polydactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hallux varus, preaxial polysyndactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Kostmann syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pilodental dysplasia, refractive errors syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Polymicrogyria with optic nerve hypoplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease type 2B5 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Digital extensor muscle aplasia with polyneuropathy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive lymphoproliferative disease (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Axial spondylometaphyseal dysplasia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Teebi Shaltout syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive lower motor neuron disease with childhood onset Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ectodermal dysplasia syndactyly syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Methylmalonic aciduria due to transcobalamin receptor defect (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive infantile hypercalcemia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
LAMB2-related infantile-onset nephrotic syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Complement component 3 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Jawad syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Young adult-onset distal hereditary motor neuropathy Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to STK4 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital nephrotic syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
RAB18, member RAS oncogene family deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Poikiloderma with neutropenia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome spondylocheirodysplastic type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Postaxial polydactyly, dental, vertebral anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Thakker Donnai syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia Genevieve type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Zechi Ceide syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some

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