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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
Chylomicron retention disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined malonic and methylmalonic aciduria Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Childhood myocerebrohepatopathy spectrum (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypermanganesemia with dystonia, polycythaemia, and cirrhosis Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Hypomyelination and congenital cataract Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Horizontal gaze palsy with progressive scoliosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Inclusion body myopathy 2 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Renal tubular dysgenesis (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
RAPADILINO syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fatty acid hydroxylase associated neurodegeneration (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataracts, facial dysmorphism and neuropathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Amish lethal microcephaly (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Andermann syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Arginine:glycine amidinotransferase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ataxia with vitamin E deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Kuskokwim syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Nakajo-Nishimura syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Warsaw breakage syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Amelogenesis imperfecta - recessive - rough Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Albinotic fundus Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Brachydactyly syndrome type B (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital dyserythropoietic anemia, type I Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive ichthyosis (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital dyserythropoietic anemia, type II Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Carpenter's syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Congenital myotonia, autosomal recessive form Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Apparent mineralocorticoid excess Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Microcephaly-capillary malformation syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
GRACILE syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ophthalmo-acromelic syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Trichohepatoenteric syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ear, patella, short stature syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Biotin-thiamine-responsive basal ganglia disease (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloenchondrodysplasia with immune dysregulation Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neuronal ceroid lipofuscinosis 8 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Brody myopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Megalencephalic leukoencephalopathy with subcortical cysts Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Manitoba oculotrichoanal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Majeed syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Retinal detachment and occipital encephalocele Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile ascending hereditary spastic paralysis (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Congenital transferrin deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Baller-Gerold syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Amelogenesis imperfecta and gingival hyperplasia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive dyskeratosis congenita Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital adrenal hyperplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Antley-Bixler syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Odontohypophosphatasia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of aminoacylase 1 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type Ia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type 1c (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Isolated hyperchlorhidrosis (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial membrane protein associated neurodegeneration (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acral peeling skin syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Spastic paraplegia type 15 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Desmosterolosis (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Atrophoderma vermiculatum Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypomagnesemia with secondary hypocalcemia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Bowen-Conradi syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
ALG12-congenital disorder of glycosylation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sudden infant death with dysgenesis of testes syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Histiocytosis-lymphadenopathy plus syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Eosinophil peroxidase deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypochromic microcytic anemia with iron overload (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Bradyopsia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
3-Methylglutaconic aciduria type 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
3-Methylglutaconic aciduria type 4 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
3-Methylglutaconic aciduria type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebral folate transport deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive axonal neuropathy with neuromyotonia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
3-methylglutaconic aciduria type 5 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebroretinal microangiopathy with calcifications and cysts Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spinal muscular atrophy with respiratory distress type 1 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
RNA polymerase III-related leukodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of phosphomannomutase 2 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of glucosyltransferase 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Macular corneal dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cryptophthalmos syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial aldosterone deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oto-onycho-peroneal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive deafness with stapes fixation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Naxos disease Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Congenital epithelial dysplasia of intestine (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease type 4 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive distal osteolysis syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 11 (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Acrocallosal syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Richards-Rundle syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Phocomelia Schinzel type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Chondrodysplasia punctata Toriello type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oculocutaneous albinism type 4 (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some

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