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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
Methylmalonic aciduria due to transcobalamin receptor defect Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive infantile hypercalcaemia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
LAMB2-related infantile-onset nephrotic syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Complement component 3 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Jawad syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Young adult-onset distal hereditary motor neuropathy Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to STK4 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital nephrotic syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
RAB18, member RAS oncogene family deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Poikiloderma with neutropenia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome spondylocheirodysplastic type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Postaxial polydactyly, dental, vertebral anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Thakker Donnai syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia Genevieve type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Zechi Ceide syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Macrosomia, microphthalmia, cleft palate syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital lethal myopathy Compton North type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Nestor Guillermo progeria syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Craniosynostosis and dental anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Xylosyltransferase 1 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive frontotemporal pachygyria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, facial dysmorphism, hand anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Distal arthrogryposis type 5D Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability with strabismus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 59 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to MALT1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe neurodegenerative syndrome with lipodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Childhood-onset spasticity with hyperglycinaemia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Epidermolysis bullosa simplex due to exophilin 5 deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Epidermolysis bullosa simplex due to BP230 deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Congenital chronic diarrhoea with protein-losing enteropathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive retinal dystrophy due to retinol transport defect Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal occipital encephalocele, skeletal dysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neonatal inflammatory skin and bowel disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Chudley McCullough syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Transient infantile hypertriglyceridaemia and hepatosteatosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Craniofacial dysplasia osteopenia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Genitopalatocardiac syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Porencephaly, microcephaly, bilateral congenital cataract syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondylo-megaepiphyseal-metaphyseal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pitt Hopkins-like syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pyknodysostosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
NPHP3-related Meckel-like syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract, hearing loss, severe developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Osteopetrosis hypogammaglobulinaemia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pancytopenia with developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease type 2R Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Polyglucosan body myopathy type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial angiolipomatosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fatal post-viral neurodegenerative disorder Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acute infantile liver failure with multisystemic involvement syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Growth retardation, mild developmental delay, chronic hepatitis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Temtamy preaxial brachydactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypomyelination with brain stem and spinal cord involvement and leg spasticity Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 14 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 9 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 17 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe intellectual disability and progressive spastic paraplegia Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Severe dermatitis, multiple allergies, metabolic wasting syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Blepharophimosis, intellectual disability syndrome, Verloes type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 27 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome due to tenascin-X deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Syndromic multisystem autoimmune disease due to ITCH deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal polymalformative syndrome Boissel type 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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