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85995004: Autosomal recessive hereditary disorder (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
142575014 Recessive hereditary disorder, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
142576010 Hereditary disorder trait, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
201251014 Recessive hereditary disorder (autosomal) en Synonym Active Entire term case insensitive SNOMED CT core module
201252019 Hereditary disorder trait (autosomal) en Synonym Active Entire term case insensitive SNOMED CT core module
201253012 Autosomal recessive hereditary disorder en Synonym Active Entire term case insensitive SNOMED CT core module
828165010 Autosomal recessive hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1931 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 Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 66 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive nail dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spondylometaphyseal dysplasia Megarbane type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Gemignani syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with intellectual disability and severe epilepsy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
2-aminoadipic 2-oxoadipic aciduria Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Fatal infantile hypertonic myofibrillar myopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Occipital pachygyria and polymicrogyria Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lipoic acid synthetase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spondylometaphyseal dysplasia A4 type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Infantile cerebellar and retinal degeneration Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lethal arteriopathy syndrome due to fibulin-4 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 10 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Distal myopathy with anterior tibial onset Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Karyomegalic interstitial nephritis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lipoyl transferase 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Familial adrenal hypoplasia with absent pituitary luteinizing hormone Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Recessive mitochondrial ataxia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Thoracic dysplasia and hydrocephalus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Richieri Costa-da Silva syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Parkinsonian pyramidal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Progressive myoclonic epilepsy type 8 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 14 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Progressive myoclonic epilepsy type 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Progressive myoclonic epilepsy type 6 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Recurrent Neisseria infection due to factor D deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Parana hard skin syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Leigh syndrome with nephrotic syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Subaortic stenosis and short stature syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive optic atrophy type 7 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Distal anoctaminopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Holzgreve syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Thoracomelic dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive severe congenital neutropenia due to colony stimulating factor 3 receptor deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive severe congenital neutropenia due to jagunal homolog 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation deficiency type 20 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Junctional epidermolysis bullosa Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Megalocornea, spherophakia, secondary glaucoma syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Oculocutaneous albinism Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Polycystic kidney disease, infantile type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Reunion Island Larsen-like syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Familial steroid-resistant nephrotic syndrome with sensorineural deafness Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Obesity due to centrosomal protein 19 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Erythropoietic uroporphyria associated with myeloid malignancy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 11 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Phosphoglucomutase 1-related congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Obesity due to SIM bHLH transcription factor 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Immunodeficiency with factor I anomaly Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive brachyolmia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 56 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive secondary polycythemia not associated with Von Hippel Lindau gene Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Navajo neurohepatopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Deficiency of interleukin 36 receptor antagonist Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic ataxia with leukoencephalopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Familial infantile myoclonic epilepsy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined immunodeficiency due to interleukin 21 receptor deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Beta-mercaptolactate cysteine disulfiduria Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Familial mesial temporal lobe epilepsy with febrile seizures Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Adult-onset autosomal recessive cerebellar ataxia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cobblestone lissencephaly without muscular or ocular involvement Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Infantile-onset autosomal recessive non progressive cerebellar ataxia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 24 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Obesity due to leptin receptor gene deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Arthrogryposis and ectodermal dysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital muscular dystrophy type 1A Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ankyrin 3 related intellectual disability, sleep disturbance syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Short chain acyl-coenzyme A dehydrogenase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Amyotonia congenita Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pendred's syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Leprechaunism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Galactosylceramide beta-galactosidase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Oguchi's disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier

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