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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
Hereditary dysautonomia with motor neuropathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Endosteal hyperostoses with cerebellar hypoplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital hereditary endothelial dystrophy type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Progressive intrahepatic cholestasis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Alpha-N-acetylgalactosaminidase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Beta-D-mannosidosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Tetrahydrobiopterin synthesis defect Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Delta-4-3-oxosteroid-5-beta-reductase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Benign ethnic neutropenia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Fatty acid oxidation defect Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive Charcot-Marie-Tooth disease type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive epidermolysis bullosa simplex Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive distal hereditary motor neuropathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive Emery-Dreifuss muscular dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive familial Parkinson disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive bilateral optic atrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive sick sinus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Gaucher disease with ophthalmoplegia and cardiovascular calcification Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Infantile glycine encephalopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Generalized congenital lipodystrophy with myopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hemoglobin Bart's hydrops syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary congenital prekallikrein deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Acromesomelic dysplasia Hunter-Thompson type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
XK aprosencephaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Tumoral calcinosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Isomerism of right atrial appendage Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Glycogen storage disease due to muscle beta-enolase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ghosal hematodiaphyseal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Malonic aciduria Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Tall stature, intellectual disability, renal anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Childhood-onset basal ganglia degeneration syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Infantile-onset generalized dyskinesia with orofacial involvement Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
TBC1 domain containing kinase-related intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 76 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Split-foot malformation, mesoaxial polydactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Glycogen storage disease, type VI Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Prenatal-onset spinal muscular atrophy with congenital bone fractures Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Adenylosuccinate synthetase-like 1-related distal myopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pili torti-deafness syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary sensory and autonomic neuropathy type 8 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 30 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 29 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 27 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Multiple carboxylase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Acyl-coenzyme A oxidase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Glutaric aciduria, type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 26 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 25 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 23 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Interleukin 21 related infantile inflammatory bowel disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Juvenile hemochromatosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 78 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mohr syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Orofacial-digital syndrome III Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Orofacial-digital syndrome IV Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined immunodeficiency due to GINS complex subunit 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined immunodeficiency due to transferrin receptor deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
NIMA related kinase 9 lethal skeletal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Dense deposit disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Leukoencephalopathy with calcifications and cysts Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Growth delay, intellectual disability, hepatopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined immunodeficiency due to CD70 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Predisposition to invasive fungal disease due to caspase recruitment domain family member 9 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Infantile inflammatory bowel disease with neurological involvement Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Classical pantothenate kinase associated neurodegeneration Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Atypical pantothenate kinase associated neurodegeneration Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hemochromatosis type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Glycogen storage disease due to lactate dehydrogenase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Aicardi Goutieres syndrome type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier

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