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85995004: Autosomal recessive hereditary disorder (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
201251014 Recessive hereditary disorder (autosomal) en Synonym Active Case insensitive SNOMED CT core
201252019 Hereditary disorder trait (autosomal) en Synonym Active Case insensitive SNOMED CT core
201253012 Autosomal recessive hereditary disorder en Synonym Active Case insensitive SNOMED CT core
828165010 Autosomal recessive hereditary disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core

1928 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
Inclusion body myopathy 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Renal tubular dysgenesis Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia with congenital joint dislocations Is a True Autosomal recessive hereditary disorder Inferred relationship Some
McKusick Kaufman syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
RAPADILINO syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Donnai-Barrow syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fatty acid hydroxylase associated neurodegeneration 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Andermann syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebral creatine deficiency syndrome 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ataxia with vitamin E deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic ataxia of Charlevoix-Saguenay Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Arthrogryposis-like 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 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital dyserythropoietic anaemia, type I Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive ichthyosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital dyserythropoietic anaemia, 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 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 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Biotin-thiamine-responsive basal ganglia disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloenchondrodysplasia with immune dysregulation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spinal muscular atrophy with progressive myoclonic epilepsy 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 DNA depletion syndrome myopathic form 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 encephalocoele Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile ascending hereditary spastic paralysis Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Tay-Sachs disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acatalasia 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 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 False Autosomal recessive hereditary disorder Inferred relationship Some
Odontohypophosphatasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of aminoacylase 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type Ia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fukuyama congenital muscular dystrophy Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type 1c Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Isolated hyperchlorhidrosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial membrane protein associated neurodegeneration 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
Walker-Warburg congenital muscular dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Muscle-eye-brain disease, congenital muscular dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Desmosterolosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Atrophoderma vermiculatum Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary nonspherocytic haemolytic anaemia due to aldolase A deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
HNSHA due to glutathione synthetase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypomagnesaemia with secondary hypocalcaemia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Bowen-Conradi syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
ALG12-congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sudden infant death with dysgenesis of testes syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Histiocytosis-lymphadenopathy plus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Eosinophil peroxidase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypochromic microcytic anaemia with iron overload Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Bradyopsia 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 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 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 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cryptophthalmos syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial hypoaldosteronism 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Naxos disease Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Intestinal epithelial dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease type 4 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive distal osteolysis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 11 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Acrocallosal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Richards-Rundle syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Schinzel phocomelia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Chondrodysplasia punctata Toriello type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oculocutaneous albinism type 4 Is a False Autosomal recessive hereditary disorder Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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