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85995004: Autosomal recessive hereditary disorder (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
201251014 Recessive hereditary disorder (autosomal) en Synonym Active Case insensitive SNOMED CT core
201252019 Hereditary disorder trait (autosomal) en Synonym Active Case insensitive SNOMED CT core
201253012 Autosomal recessive hereditary disorder en Synonym Active Case insensitive SNOMED CT core
828165010 Autosomal recessive hereditary disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core

1928 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
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spinocerebellar ataxia with axonal neuropathy type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Dyssegmental dysplasia Silverman Handmaker type 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 acidaemia due to methylmalonyl-coenzyme A epimerase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oculocutaneous albinism type 1 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Carbamoyl-phosphate synthetase 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial glucocorticoid deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital sideroblastic anaemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial DNA depletion syndrome encephalomyopathic form Is a True Autosomal recessive hereditary disorder Inferred relationship Some
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 45 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cono-spondylar dysplasia 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 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypomyelination neuropathy arthrogryposis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe early-onset axonal neuropathy due to mitofusin 2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Haemolytic anaemia due to adenylate kinase deficiency 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 methaemoglobinaemia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypermanganesemia with dystonia 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 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 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism Alazami type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome 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 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 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
2p21 microdeletion syndrome without cystinuria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome 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 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cortical dysplasia with focal epilepsy syndrome Is a True 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 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pilodental dysplasia, refractive errors syndrome 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Digital extensor muscle aplasia with polyneuropathy 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Axial spondylometaphyseal dysplasia 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 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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