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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
142575014 Recessive hereditary disorder, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
142576010 Hereditary disorder trait, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
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
Van den Ende-Gupta syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Taurodontia with absent teeth and sparse hair syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
camptodactylie de Tel Hashomer est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Temtamy syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Haim Munk syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hemochromatosis type 3 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease type 2B2 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Alport syndrome autosomal recessive (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Bartter syndrome type 4a (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Microphthalmia with brain atrophy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Acrofrontofacionasal dysostosis (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome acrootooculaire est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Acrorenal mandibular syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Acrocapitofemoral dysplasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Acrocephalopolydactyly (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Acrocraniofacial dysostosis (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Campomelia Cumming type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Camptodactyly syndrome Guadalajara type 1 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cardiomyopathy with cataract and hip spine disease syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
dysostose acrofaciale type Rodríguez est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Adducted thumbs and arthrogryposis syndrome Christian type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Adult-onset autosomal recessive sideroblastic anemia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
dystonie-parkinsonisme de l'adulte est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Anophthalmia plus syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Aplasia cutis with myopia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Athabaskan brainstem dysgenesis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome d'athérosclérose, surdité, épilepsie, diabète, néphropathie est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Attenuated Chédiak-Higashi syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Bosley Salih Alorainy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Braddock syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Brain calcification Rajab type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cenani Lenz syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebro-facio-thoracic dysplasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
maladie de Charcot-Marie-Tooth type 2H est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
epidermodysplasie verruciforme est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spinocerebellar degeneration and corneal dystrophy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cranioosteoarthropathy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Craniofacial ulnar renal syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cutaneous photosensitivity and lethal colitis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cystic leukoencephalopathy without megalencephaly (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Chondrodysplasia with disorder of sex development syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome d'hypertrichose cervicale-neuropathie périphérique est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome cardiac valvular type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Eiken syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Encephalopathy due to prosaposin deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Asparagine-linked glycosylation 1 congenital disorder of glycosylation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Filippi syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Frank-Ter Haar syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Asparagine-linked glycosylation 3 congenital disorder of glycosylation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Asparagine-linked glycosylation 8 congenital disorder of glycosylation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Amaurosis hypertrichosis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome d'Ehlers-Danlos type progéroïde est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Fine Lubinsky syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hall Riggs syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Heart defect and limb shortening syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Postaxial polydactyly and intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
surdité-cécité-hypopigmentation est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Diaphanospondylodysostosis (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hydrolethalus syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Short stature due to primary acid labile subunit deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Siegler Brewer Carey syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
dermato-ostéolyse type Kirghize est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Component of oligomeric golgi complex 7 congenital disorder of glycosylation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Component of oligomeric golgi complex 8 congenital disorder of glycosylation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some

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