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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
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome 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 GINS1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to TFRC deficiency 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome 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 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
CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile inflammatory bowel disease with neurological involvement Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction 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 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 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
Aicardi Goutieres syndrome type 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Aicardi Goutieres syndrome type 4 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Aicardi Goutieres syndrome type 5 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mucopolysaccharidosis-like plus disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Stromme syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sugarman brachydactyly Is a True Autosomal recessive hereditary disorder Inferred relationship Some
SLC39A8 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
CCDC115 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Isolated generalised anhidrosis with normal sweat glands Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Chronic enteropathy associated with SLCO2A1 gene Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic cortical malformations, short stature due to RTTN deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, epilepsy, extrapyramidal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
VPS11-related autosomal recessive hypomyelinating leucodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Seizures, scoliosis, macrocephaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive hereditary spastic paraplegia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glycogen storage disease due to aldolase A deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe autosomal recessive macrothrombocytopenia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of galactose mutarotase Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Phosphoglucomutase 3-related congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial phosphate carrier deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 28 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Basel Vanagaite Smirin Yosef syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sanjad Sakati syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive isolated optic atrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Amish nemaline myopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to DOCK8 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive dysgenesis of anterior segment of eye Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Susceptibility to infection due to TYK2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency, enteropathy spectrum Is a True Autosomal recessive hereditary disorder Inferred relationship Some
QRSL1-related combined oxidative phosphorylation defect Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to LRBA deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Primary immunodeficiency with multifaceted aberrant lymphoid immunity Is a True Autosomal recessive hereditary disorder Inferred relationship Some
DOCK2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Susceptibility to localised juvenile periodontitis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial chylomicronemia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive amyotrophic lateral sclerosis type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Steel syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
CIDEC-related familial partial lipodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
LIPE-related familial partial lipodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
COG2-related congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive central core disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Juvenile amyotrophic lateral sclerosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital fibre-type disproportion myopathy due to ZAK mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive congenital fibre-type disproportion myopathy due to SELENON mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lymphoedema, posterior choanal atresia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe oculo-renal-cerebellar syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Eye defects, arachnodactyly, cardiopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism type II Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive congenital fibre-type disproportion myopathy due to TPM3 mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive cerebello-cerebral atrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Gitelman syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital autosomal recessive small-platelet thrombocytopenia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fever-associated acute infantile liver failure syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
TMEM199 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement Is a True Autosomal recessive hereditary disorder Inferred relationship Some
4H leucodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progeroid features, hepatocellular carcinoma predisposition syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebral ventriculomegaly, cystic kidney disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial pyruvate carrier deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Klippel-Feil anomaly, myopathy, facial dysmorphism 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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