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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
Chylomicron retention disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined malonic and methylmalonic aciduria Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Childhood myocerebrohepatopathy spectrum Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypermanganesemia with dystonia, polycythemia, and cirrhosis Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypomyelination and congenital cataract Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Horizontal gaze palsy with progressive scoliosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Inclusion body myopathy 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Renal tubular dysgenesis Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia with congenital joint dislocations Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
RAPADILINO syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Diaphragmatic hernia-exomphalos-hypertelorism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Fatty acid hydroxylase associated neurodegeneration Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataracts, facial dysmorphism and neuropathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Amish lethal microcephaly Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Agenesis of corpus callosum with peripheral neuropathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cerebral creatine deficiency syndrome 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ataxia with vitamin E deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic ataxia of Charlevoix-Saguenay Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Arthrogryposis-like syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autoinflammation, lipodystrophy and dermatosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Warsaw breakage syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Amelogenesis imperfecta - recessive - rough Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Albinotic fundus Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly syndrome type B Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital dyserythropoietic anemia, type I Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive ichthyosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital dyserythropoietic anemia, type II Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Carpenter's syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital myotonia, autosomal recessive form Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Apparent mineralocorticoid excess Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly-capillary malformation syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ophthalmo-acromelic syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Trichohepatoenteric syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ear, patella, short stature syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Biotin-thiamine-responsive basal ganglia disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spondyloenchondrodysplasia with immune dysregulation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spinal muscular atrophy with progressive myoclonic epilepsy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Progressive epilepsy-intellectual disability syndrome Finnish type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Brody myopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Megalencephalic leukoencephalopathy with subcortical cysts Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Manitoba oculotrichoanal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Retinal detachment and occipital encephalocele Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Infantile ascending hereditary spastic paralysis Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital transferrin deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Baller-Gerold syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Amelogenesis imperfecta and gingival hyperplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive dyskeratosis congenita Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital adrenal hyperplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Antley-Bixler syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Odontohypophosphatasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Deficiency of aminoacylase 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type Ia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1c Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Isolated hyperchlorhidrosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mitochondrial membrane protein associated neurodegeneration Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Acral peeling skin syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spastic paraplegia type 15 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Desmosterolosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Atrophoderma vermiculatum Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypomagnesemia with secondary hypocalcemia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Bowen-Conradi syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
ALG12-congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Sudden infant death with dysgenesis of testes syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Histiocytosis-lymphadenopathy plus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Eosinophil peroxidase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypochromic microcytic anemia with iron overload Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Bradyopsia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
3-Methylglutaconic aciduria type 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
3-Methylglutaconic aciduria type 4 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
3-Methylglutaconic aciduria type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cerebral folate transport deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive axonal neuropathy with neuromyotonia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
3-methylglutaconic aciduria type 5 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cerebroretinal microangiopathy with calcifications and cysts Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spinal muscular atrophy with respiratory distress type 1 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ribonucleic acid polymerase III-related leukodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Deficiency of phosphomannomutase 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Deficiency of glucosyltransferase 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Macular corneal dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cryptophthalmos syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Familial aldosterone deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Oto-onycho-peroneal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Progressive deafness with stapes fixation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital epithelial dysplasia of intestine Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease type 4 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive distal osteolysis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 11 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Acrocallosal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Richards-Rundle syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Phocomelia Schinzel type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Chondrodysplasia punctata Toriello type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Oculocutaneous albinism type 4 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Prominent glabella with microcephaly and hypogenitalism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier

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