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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

1879 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive hereditary disorder est un(e) (attribut) Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Wolman's disease est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Laron-type isolated somatotropin defect est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hyperimmunoglobulin E syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive severe combined immunodeficiency disease (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Trehalase deficiency est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Pyruvate carboxylase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Isovaleryl-CoA dehydrogenase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Biotinidase deficiency est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Sanfilippo syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Zellweger syndrome est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Wilson's disease est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Crigler-Najjar syndrome, type I est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Muscle AMP deaminase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pseudohypoaldosteronism, type 1, recessive form est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mandibuloacral dysostosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Glycogen storage disease, type I est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lipoprotein glomerulopathy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Testicular tumor of adrenogenital syndrome est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Laurence-Moon syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Peters plus syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de tortuosité artérielle est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Essential pentosuria est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ultraviolet sensitive syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
21-hydroxylase deficiency (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
2-hydroxyglutaric aciduria est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
North American Indian childhood cirrhosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Neutral lipid storage disease with myopathy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Myoclonic epilepsy myopathy sensory ataxia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive bulbar palsy with sensorineural deafness (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Interleukin-1 receptor-associated kinase 4 deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
EAST (Epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Hyperphosphatasaemia with intellectual disability est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive idiopathic familial dystonia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital leptin deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Alpha-methylacyl-CoA racemase deficiency disorder est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Sensorineural deafness and male infertility est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Tetra-amelia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive myoclonus epilepsy with ataxia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
3-M syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Early onset myopathy with fatal cardiomyopathy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spondylocarpotarsal synostosis syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de persistance des canaux de Müller est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cold-induced sweating syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Chylomicron retention disease est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined malonic and methylmalonic aciduria est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Childhood myocerebrohepatopathy spectrum (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypermanganesemia with dystonia, polycythaemia, and cirrhosis est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Hypomyelination and congenital cataract est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
paralysie horizontale du regard avec scoliose progressive est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Inclusion body myopathy 2 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Renal tubular dysgenesis (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
RAPADILINO syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Fatty acid hydroxylase associated neurodegeneration (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataracts, facial dysmorphism and neuropathy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Amish lethal microcephaly (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Andermann syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Arginine:glycine amidinotransferase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ataxia with vitamin E deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
ataxie spastique autosomique récessive de Charlevoix-Saguenay est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Kuskokwim syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Nakajo-Nishimura syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de cassure chromosomique de Varsovie est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Amelogenesis imperfecta - recessive - rough est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
fond d'œil albinique (trouble) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Brachydactyly syndrome type B (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
anémie dysérythropoïétique congénitale type I (trouble) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive ichthyosis (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital dyserythropoietic anemia, type II est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Carpenter's syndrome est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Congenital myotonia, autosomal recessive form est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
excès apparent de minéralocorticoïdes est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Microcephaly-capillary malformation syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
GRACILE syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ophthalmo-acromelic syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Trichohepatoenteric syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ear, patella, short stature syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Biotin-thiamine-responsive basal ganglia disease (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloenchondrodysplasia with immune dysregulation est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Neuronal ceroid lipofuscinosis 8 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Brody myopathy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Megalencephalic leukoencephalopathy with subcortical cysts est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Manitoba oculotrichoanal syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Majeed syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Retinal detachment and occipital encephalocele est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile ascending hereditary spastic paralysis (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Tay-Sachs disease est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Acatalasia est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Congenital transferrin deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Baller-Gerold syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Amelogenesis imperfecta and gingival hyperplasia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive dyskeratosis congenita est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some

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