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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
Craniofacial dyssynostosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
3MC syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Craniosynostosis, anal anomaly, porokeratosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cutaneous photosensitivity and lethal colitis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cystic leucoencephalopathy without megalencephaly Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital neuronal ceroid lipofuscinosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Chondrodysplasia with disorder of sex development syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cervical hypertrichosis and peripheral neuropathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
EEM syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome cardiac valvular type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Eiken syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Encephalopathy due to prosaposin deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
ALG1 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Filippi syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fountain syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Frank-Ter Haar syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
ALG3 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
ALG8 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
ALG9 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Alopecia, contracture, dwarfism, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Amaurosis hypertrichosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cloverleaf skull with multiple congenital anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
CODAS syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome progeroid type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fine Lubinsky syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hall Riggs syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Heart defect and limb shortening syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oliver syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deaf blind hypopigmentation syndrome Yemenite type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Diaphanospondylodysostosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hydrolethalus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Short stature due to primary acid labile subunit deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Siegler Brewer Carey syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Dermatoosteolysis Kirghizian type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
COG7 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
COG8 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Goldberg Shprintzen megacolon syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary sensory and autonomic neuropathy with deafness and global delay Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Beemer Ertbruggen syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
BNAR syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Brain dopamine-serotonin vesicular transport disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hernandez Aguirre Negrete syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hidrotic ectodermal dysplasia Halal type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypotonia cystinuria syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Homocystinuria without methylmalonic aciduria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial hypertryptophanaemia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
GAPO syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypomandibular faciocranial dysostosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Qazi Markouizos syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Robinow-like syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Bilateral microtia with deafness and cleft palate syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypergonadotropic hypogonadism with cataract syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Say Barber Miller syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lung agenesis with heart defect and thumb anomaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lymphoedema, atrial septal defect, facial changes syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
DOORS syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
High myopia and sensorineural deafness Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Chronic atrial and intestinal dysrhythmia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Multiple mitochondrial dysfunctions syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hepatic lipase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Adult polyglucosan body disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
COG5 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to calcium release activated calcium channel dysfunction Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Juvenile primary lateral sclerosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lowry Wood syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability with cataract and kyphosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Iron-refractory iron deficiency anaemia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Kapur Toriello syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypohidrotic ectodermal dysplasia, hypothyroidism, ciliary dyskinesia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Kallman syndrome with heart disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Obesity due to prohormone convertase I deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oculo-palato-cerebral syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oculocerebrofacial syndrome Kaufman type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oculocutaneous albinism type 5 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Oculocutaneous albinism type 6 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Oculocutaneous albinism type 7 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Oculoosteocutaneous syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oculotrichodysplasia Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Odontoleukodystrophy Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autoimmune lymphoproliferative syndrome with recurrent viral infection Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Bamforth Lazarus 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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