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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
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

2088 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
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
Leigh syndrome with nephrotic syndrome 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-like syndrome 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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