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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
spectre ostéolyse multicentrique-nodulose-arthropathie est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pelizaeus Merzbacher like disease (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Bietti's crystalline retinopathy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of leukotriene C4 synthase (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
ataxie cérébelleuse type Caïman est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital plasminogen activator inhibitor deficiency type 1 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lissencephaly syndrome Norman Roberts type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Neurogenic arthrogryposis multiplex congenita (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Encephalopathy due to sulfite oxidase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive primary microcephaly (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
déficit congénital en alpha-foetoprotéine est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Epidermolysis bullosa simplex with pyloric atresia est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Joubert syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hyperprolinemia type 2 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Isolated right ventricular hypoplasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Behr syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive sideroblastic anemia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Sonoda syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Moyamoya disease with early onset achalasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Familial median cleft of upper and lower lip (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mevalonic aciduria (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
dysplasie acromésomélique type Maroteaux est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Achalasia microcephaly syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome héréditaire de calcification artérielle et articulaire est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 7 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 6 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 5 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 4 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 3 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 1 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 8 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Oro-facial digital syndrome type 9 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Carbohydrate deficient glycoprotein syndrome type 1m (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Primary immunodeficiency syndrome due to p14 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital analbuminemia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Generalized peeling skin syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Component of oligomeric golgi complex 1 congenital disorder of glycosylation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Zellweger-like syndrome without peroxisomal anomaly (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
DK phocomelia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Partial agenesis of pancreas (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Brittle cornea syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 39 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia Shohat type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia tarda Kohn type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia aggrecan type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pyknoachondrogenesis (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive cavitating leukoencephalopathy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lathosterolosis (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pelviscapular dysplasia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalus with albinism and digital anomaly syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalus cardiomyopathy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal faciocardiomelic dysplasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal recessive chondrodysplasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal omphalocele with cleft palate syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal Larsen-like syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lelis syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Late-onset junctional epidermolysis bullosa (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of dimethylglycine dehydrogenase (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital bile acid synthesis defect type 3 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cone dystrophy with supernormal rod response (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
2p21 microdeletion syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de fibromatose gingivale-dysmorphie faciale est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
dysplasie épiphysaire multiple type Al-Gazali est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Vici syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia Irapa type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Absent thumb with short stature and immunodeficiency syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Renal dysplasia with limb defect syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital hypoplasia of ulna and intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Van den Ende-Gupta syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some

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