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85995004: Autosomal recessive hereditary disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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

1931 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 Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Prominent glabella with microcephaly and hypogenitalism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Retinitis punctata albescens Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Bothnia retinal dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spondyloocular syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive cerebelloparenchymal disorder type 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cerebellar ataxia co-occurrent with ectodermal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lethal congenital contracture syndrome type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lethal congenital contracture syndrome type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lethal congenital contracture syndrome type 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcephalus co-occurrent with cervical spine fusion anomaly Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mesomelic dysplasia with cleft palate and camptodactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Aplasia of fibula co-occurrent with complex brachydactyly Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism of Toriello type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Brachyolmia type 1 Toledo type Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Multiple epiphyseal dysplasia type 4 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive muscular dystrophy with limb girdle distribution Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Skeletal dysplasia with epilepsy and short stature syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined deficiency of factor V and factor VIII Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cleft lip and cleft palate with ectodermal dysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital amegakaryocytic thrombocytopenia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Smith McCort dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital bowing of long bone Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Oculocerebral dysplasia syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lysosomal acid lipase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Frontofacionasal dysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Dicarboxylic aminoaciduria syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Citrin deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Holoprosencephaly and postaxial polydactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Fibulo-ulnar hypoplasia and renal anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypospadias and intellectual disability syndrome Goldblatt type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Macrocephaly with spastic paraplegia and dysmorphism syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Upper limb defect with eye and ear abnormalities syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Deafness with cataract and skeletal anomaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Oculocerebral hypopigmentation syndrome of Preus type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Deafness with epiphyseal dysplasia and short stature syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hearing loss and salivary gland insensitivity to aldosterone syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability and short stature with hand contracture and genital anomaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Severe early childhood onset retinal dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Potter sequence cleft lip and palate cardiopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital alpha-2-antiplasmin deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Multicentric osteolysis nodulosis arthropathy spectrum Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pelizaeus Merzbacher like disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Renal tubulopathy with encephalopathy and liver failure syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Bietti's crystalline retinopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Deficiency of leukotriene C4 synthase Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary palmoplantar keratoderma Gamborg Nielsen type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cerebellar ataxia Cayman type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital plasminogen activator inhibitor deficiency type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lissencephaly syndrome Norman Roberts type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Neurogenic arthrogryposis multiplex congenita Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Encephalopathy due to sulfite oxidase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive primary microcephaly Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital deficiency of alpha-fetoprotein Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Epidermolysis bullosa simplex due to plakophilin deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Epidermolysis bullosa simplex co-occurrent with pyloric atresia Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Joubert syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hyperprolinemia type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Isolated right ventricular hypoplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome kyphoscoliotic type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mitochondrial neurogastrointestinal encephalomyopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Behr syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive sideroblastic anemia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital heart defect with round face and developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Moyamoya disease with early onset achalasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Familial median cleft of upper and lower lip Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mevalonic aciduria Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Acromesomelic dysplasia Maroteaux type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Achalasia microcephaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary arterial and articular multiple calcification syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 7 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 6 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 5 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 4 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 3 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 8 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 9 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Carbohydrate deficient glycoprotein syndrome type 1m Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Primary immunodeficiency syndrome due to p14 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lissencephaly type 3 familial fetal akinesia sequence syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lissencephaly type 3 metacarpal bone dysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital analbuminemia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Generalized peeling skin syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Component of oligomeric golgi complex 1 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Component of oligomeric golgi complex 4 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Zellweger-like syndrome without peroxisomal anomaly Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier

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