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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
142575014 Recessive hereditary disorder, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
142576010 Hereditary disorder trait, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
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
4671271000241119 maladie héréditaire récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1967 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 ulnar renal syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cutaneous photosensitivity and lethal colitis syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cystic leukoencephalopathy without megalencephaly (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Chondrodysplasia with disorder of sex development syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cervical hypertrichosis and peripheral neuropathy syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome cardiac valvular type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Eiken syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Encephalopathy due to prosaposin deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Asparagine-linked glycosylation 1 congenital disorder of glycosylation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Filippi syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Frank-Ter Haar syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Asparagine-linked glycosylation 3 congenital disorder of glycosylation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Asparagine-linked glycosylation 8 congenital disorder of glycosylation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Amaurosis hypertrichosis syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome progeroid type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fine Lubinsky syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hall Riggs syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Postaxial polydactyly and intellectual disability syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deaf blind hypopigmentation syndrome Yemenite type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Diaphanospondylodysostosis (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hydrolethalus syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Short stature due to primary acid labile subunit deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Siegler Brewer Carey syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Dermatoosteolysis Kirghizian type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Component of oligomeric golgi complex 7 congenital disorder of glycosylation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Component of oligomeric golgi complex 8 congenital disorder of glycosylation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Brain dopamine-serotonin vesicular transport disease (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, epilepsy, bulbous nose syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hidrotic ectodermal dysplasia Halal type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypotonia cystinuria syndrome (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Homocystinuria without methylmalonic aciduria (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial hypertryptophanemia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypomandibular faciocranial dysostosis (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Puerto Rican infant hypotonia syndrome (disorder) 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 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lymphedema, atrial septal defect, facial changes syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deafness and myopia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Chronic atrial and intestinal dysrhythmia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Multiple mitochondrial dysfunctions syndrome (disorder) 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 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to calcium release activated calcium channel dysfunction (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Juvenile primary lateral sclerosis (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypertelorism with microtia and facial clefting syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability with cataract and kyphosis syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Iron-refractory iron deficiency anemia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Kapur Toriello syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Kallman syndrome with heart disease (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Obesity due to prohormone convertase I deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oculopalatocerebral syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oculocerebrofacial syndrome Kaufman type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oculocutaneous albinism type 5 (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Oculocutaneous albinism type 6 (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Oculocutaneous albinism type 7 (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Oculoosteocutaneous syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oculotrichodysplasia (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Odontoleukodystrophy (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Bamforth Lazarus syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive popliteal pterygium syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some

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