85995004: Autosomal recessive hereditary disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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-liknande syndrom	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
syndrom med intellektuell funktionsnedsättning, katarakt och kyfos	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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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
2599051000052111	autosomalt recessiv ärftlig sjukdom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)