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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
142575014 Recessive hereditary disorder, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
142576010 Hereditary disorder trait, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
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
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acrocephalopolysyndactyly type II Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deafness, small bowel diverticulosis, neuropathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Preaxial polydactyly, colobomata, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalus, digital anomaly, intellectual disability syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Mikati Najjar Sahli syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Dandy-Walker malformation with postaxial polydactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type 1w Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type 1x Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acrocephalopolysyndactyly type IV Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Adult onset multiple mitochondrial DNA deletion syndrome due to deoxyguanosine kinase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 8 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
SRD5A3-CDG - steroid 5 alpha-reductase 3 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
XY type gonadal dysgenesis with associated anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Summitt syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
46,XX disorder of sex development with skeletal anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of alpha-ketoglutarate dehydrogenase Is a True Autosomal recessive hereditary disorder Inferred relationship Some
3-phosphoglycerate dehydrogenase deficiency juvenile form Is a True Autosomal recessive hereditary disorder Inferred relationship Some
3-phosphoglycerate dehydrogenase deficiency infantile form Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pyridoxine-dependent epilepsy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Gorlin-Chaudhry-Moss syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypogonadism, diabetes mellitus, alopecia, intellectual disability and ECG abnormalities Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Refetoff syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Peroxisome biogenesis disorder Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Isolated follicle stimulating hormone deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Classical cystic fibrosis Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Atypical cystic fibrosis Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Subclinical cystic fibrosis Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 13 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Grubben, De Cock, Borghgraef syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 15 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 7 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 9 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 21 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Conductive deafness, ptosis, skeletal anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital myopathy with myasthenic-like onset Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Connective tissue disorder due to lysyl hydroxylase-3 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fetal akinesia, cerebral and retinal haemorrhage syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia with late-onset spasticity Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive myoclonic epilepsy with dystonia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spectrin-associated autosomal recessive cerebellar ataxia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebrofacioarticular syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 48 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 5A Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 28 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Ichthyosis prematurity syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Lethal multiple pterygium syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Distal hereditary motor neuropathy Jerash type Is a False Autosomal recessive hereditary disorder Inferred relationship Some
White forelock with malformations syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lichtenstein syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypermethioninaemia due to deficiency of glycine N-methyltransferase Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypermethioninaemia encephalopathy due to deficiency of adenosine kinase Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypotonia, speech impairment, severe cognitive delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Larsen-like syndrome B3GAT3 type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Macrocephaly and developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oculoauricular syndrome Schorderet type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oro-facial digital syndrome type 14 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pachygyria, intellectual disability, epilepsy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Short stature with delayed bone age due to thyroid hormone metabolism deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Renal hepatic pancreatic dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Myosclerosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Primary intraosseous venous malformation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Woolly hair with palmoplantar keratoderma syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Action myoclonus renal failure syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia anauxetic type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial isolated trichomegaly Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 15 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 35 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
7p22.1 microduplication syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 21 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 43 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive myogenic arthrogryposis multiplex congenita Is a True Autosomal recessive hereditary disorder Inferred relationship Some
3-methylglutaconic aciduria type 7 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital muscular dystrophy type 1B Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Constitutional mismatch repair deficiency syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 62 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation 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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