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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
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 (disorder) 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 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fatty acid oxidation defect (disorder) 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 (disorder) 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 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive sick sinus syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile glycine encephalopathy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Generalized congenital lipodystrophy with myopathy (disorder) 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 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acromesomelic dysplasia Hunter-Thompson type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
XK aprosencephaly syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Tumoral calcinosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Isomerism of right atrial appendage (disorder) 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
Ghosal hematodiaphyseal dysplasia 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 (disorder) 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 (disorder) 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 (disorder) 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 leukodystrophy (disorder) 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
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (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 (disorder) 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 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Adenylosuccinate synthetase-like 1-related distal myopathy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) 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 (disorder) 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 RAR related orphan receptor C receptor mutation (disorder) 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 (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 (disorder) 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
Interleukin 21 related infantile inflammatory bowel disease (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Juvenile hemochromatosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 78 (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) 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 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mohr syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Orofacial-digital syndrome III Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Orofacial-digital syndrome IV Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to GINS complex subunit 1 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to transferrin receptor deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
NEK9-related lethal skeletal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Dense deposit disease (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Leucoencephalopathy with calcifications and cysts Is a True Autosomal recessive hereditary disorder Inferred relationship Some
GNB5-related intellectual disability, cardiac arrhythmia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to CARMIL2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Growth delay, intellectual disability, hepatopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to ITK deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to CD70 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Predisposition to invasive fungal disease due to CARD9 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile inflammatory bowel disease with neurological involvement (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Classical pantothenate kinase associated neurodegeneration Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Atypical pantothenate kinase associated neurodegeneration (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Haemochromatosis type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glycogen storage disease due to lactate dehydrogenase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Aicardi Goutieres syndrome type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Some

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