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
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 66	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive nail dysplasia	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Gemignani syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive cerebellar ataxia due to STUB1 deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
2-aminoadipic 2-oxoadipic aciduria (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Fatal infantile hypertonic myofibrillar myopathy (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Occipital pachygyria and polymicrogyria (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Lipoic acid synthetase deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spondylometaphyseal dysplasia A4 type (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Infantile cerebellar and retinal degeneration (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 10 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Distal myopathy with anterior tibial onset	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Karyomegalic interstitial nephritis (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Lipoyl transferase 1 deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Recessive mitochondrial ataxia syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Thoracic dysplasia and hydrocephalus syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Richieri Costa-da Silva syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Parkinsonian pyramidal syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Progressive myoclonic epilepsy type 8 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 14	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Progressive myoclonic epilepsy type 3	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
RIDDLE syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Progressive myoclonic epilepsy type 6 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Recurrent Neisseria infection due to factor D deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Parana hard skin syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Leighs syndrom med nefrotiskt syndrom	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Subaortic stenosis and short stature syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive optic atrophy type 7 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Distal anoctaminopathy	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Holzgreve syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Thoracomelic dysplasia (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Combined oxidative phosphorylation deficiency type 20 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Junctional epidermolysis bullosa (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Oculocutaneous albinism	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Polycystic kidney disease, infantile type	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Reunion Island Larsen-liknande syndrom	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Obesity due to CEP19 deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Erythropoietic uroporphyria associated with myeloid malignancy	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Combined oxidative phosphorylation defect type 11	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
PGM1-related congenital disorder of glycosylation	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Obesity due to SIM1 deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Immunodeficiency with factor I anomaly (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive brachyolmia (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 56 (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive secondary polycythemia not associated with Von Hippel Lindau gene (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Navajo neurohepatopathy	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Deficiency of interleukin 36 receptor antagonist	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic ataxia with leukoencephalopathy (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Familial infantile myoclonic epilepsy	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Combined immunodeficiency due to interleukin 21 receptor deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Beta-mercaptolactate cysteine disulfiduria (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Familial mesial temporal lobe epilepsy with febrile seizures (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Adult-onset autosomal recessive cerebellar ataxia (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Cobblestone lissencephaly without muscular or ocular involvement (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Infantile-onset autosomal recessive non progressive cerebellar ataxia	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive spastic paraplegia type 24	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Obesity due to leptin receptor gene deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Arthrogryposis and ectodermal dysplasia syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital muscular dystrophy type 1A	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Short chain acyl-coenzyme A dehydrogenase deficiency (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Amyotonia congenita	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Pendred's syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Leprechaunism syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Galactosylceramide beta-galactosidase deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Oguchi's disease (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)