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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
Rolland-Debuqois syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acrocardiofacial syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pachydermoperiostosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive Robinow syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Bilateral frontoparietal polymicrogyria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital muscular dystrophy type 1D large gene mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type 1i Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Type 3 lissencephaly Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Phenylketonuria due to tetrahydrobiopterin deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Rothmund Thomson syndrome type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Rothmund Thomson syndrome type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Stickler syndrome type 4 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Wrinkly skin syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Atrichia congenita Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile systemic hyalinosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Polyglandular autoimmune syndrome, type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acute neuronopathic Gaucher's disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital secretory diarrhoea, chloride type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Vanishing white matter disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Kerasin thesaurismosis Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Haemoglobin C beta thalassaemia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Citrullinaemia type I Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Curry-Hall syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive cerebellar ataxia with hypogonadism Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary dysautonomia with motor neuropathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Endosteal hyperostoses with cerebellar hypoplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital hereditary endothelial dystrophy type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive intrahepatic cholestasis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Beta-D-mannosidosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Tetrahydrobiopterin synthesis defect Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Delta-4-3-oxosteroid-5-beta-reductase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Benign ethnic neutropenia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fatty acid oxidation defect Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive Charcot-Marie-Tooth disease type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive epidermolysis bullosa simplex Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive distal hereditary motor neuropathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive Emery-Dreifuss muscular dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive familial Parkinson disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive bilateral optic atrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive sick sinus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Gaucher disease with ophthalmoplegia and cardiovascular calcification Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile glycine encephalopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Generalised congenital lipodystrophy with myopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Haemoglobin Bart's hydrops syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary congenital prekallikrein deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hunter-Thompson dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
XK aprosencephaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Tumoural calcinosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Isomerism of right atrial appendage Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glycogen storage disease due to muscle beta-enolase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Diaphyseal dysplasia with anaemia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Malonic aciduria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
MARCH syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Tall stature, intellectual disability, renal anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Childhood-onset basal ganglia degeneration syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
C11ORF73-related autosomal recessive hypomyelinating leucodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile-onset generalised dyskinesia with orofacial involvement Is a True Autosomal recessive hereditary disorder Inferred relationship Some
TELO2-related intellectual disability, neurodevelopmental disorder Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
TBCK-related intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 76 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glycogen storage disease, type VI Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Prenatal-onset spinal muscular atrophy with congenital bone fractures Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Adenylosuccinate synthetase-like 1-related distal myopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pili torti-deafness syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary sensory and autonomic neuropathy type 8 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 30 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 29 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 27 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RORgamma receptor mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Multiple carboxylase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acyl-CoA oxidase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glutaric aciduria, type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 26 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 25 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 23 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
IL21-related infantile inflammatory bowel disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Juvenile haemochromatosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 78 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cerebellar ataxia due to RNU12 mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hyperphenylalanineaemia due to DNAJC12 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange 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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