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
Acrocephalopolysyndactyly type II (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
syndrom med mikrocefali, digital anomali och intellektuell funktionsnedsättning	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Dandy-Walker malformation with postaxial polydactyly syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital disorder of glycosylation type 1w (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital disorder of glycosylation type 1x	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Aniridia, renal agenesis, psychomotor retardation syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Acrocephalopolysyndactyly type IV (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Combined oxidative phosphorylation defect type 8 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital disorder of glycosylation type 1q (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Summitt syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
46,XX disorder of sex development with skeletal anomalies syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Deficiency of alpha-ketoglutarate dehydrogenase (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Gorlin-Chaudhry-Moss syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
hypogonadism, diabetes mellitus, alopeci, psykisk utvecklingsstörning och elektrokardiografiska avvikelser	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Refetoff syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Peroxisome biogenesis disorder	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Isolated follicle stimulating hormone deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Classical cystic fibrosis (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Atypical cystic fibrosis (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Subclinical cystic fibrosis	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Combined oxidative phosphorylation defect type 13 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Grubben, De Cock, Borghgraef syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Combined oxidative phosphorylation defect type 15 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Combined oxidative phosphorylation defect type 7 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Combined oxidative phosphorylation defect type 9 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Combined oxidative phosphorylation defect type 21	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Conductive deafness, ptosis, skeletal anomalies syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital myopathy with myasthenic-like onset (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Connective tissue disorder due to lysyl hydroxylase-3 deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Lethal congenital contracture syndrome type 5	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive cerebellar ataxia with late-onset spasticity	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Progressive myoclonic epilepsy with dystonia	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spectrin-associated autosomal recessive cerebellar ataxia	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Cerebrofacioarticular syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 48 (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 5A	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 28	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Ichthyosis prematurity syndrome	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Lethal multiple pterygium syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Distal hereditary motor neuropathy Jerash type	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
White forelock with malformations syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Lichtenstein syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hypermethioninemia due to deficiency of glycine N-methyltransferase	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hypotonia, speech impairment, severe cognitive delay syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Macrocephaly and developmental delay syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Oculoauricular syndrome Schorderet type	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Oro-facial digital syndrome type 14	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Pachygyria, intellectual disability, epilepsy syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Renal hepatic pancreatic dysplasia (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Myosclerosis (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Primary intraosseous venous malformation (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Wooly hair with palmoplantar keratoderma syndrome	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Action myoclonus renal failure syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia anauxetic type (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Familial isolated trichomegaly	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 15	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 35	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
7p22.1 microduplication syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 21	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 43 (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
3-methylglutaconic aciduria type 7 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Combined oxidative phosphorylation defect type 2	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital muscular dystrophy type 1B	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Constitutional mismatch repair deficiency syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 62	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spinocerebellar ataxia with axonal neuropathy type 1 (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)