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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

2088 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
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Retinitis punctata albescens (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Bothnia retinal dystrophy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloocular syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal congenital contracture syndrome type 1 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal congenital contracture syndrome type 2 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal congenital contracture syndrome type 3 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 2 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism of Toriello type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Brachyolmia type 1 Toledo type Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Multiple epiphyseal dysplasia type 4 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive muscular dystrophy with limb girdle distribution Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined deficiency of factor V and factor VIII (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital amegakaryocytic thrombocytopenia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Smith McCort dysplasia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital bowing of long bone (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Oculocerebral dysplasia syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Lysosomal acid lipase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Frontofacionasal dysplasia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Dicarboxylic aminoaciduria syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Citrin deficiency (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Holoprosencephaly and postaxial polydactyly syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Upper limb defect with eye and ear abnormalities syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oculocerebral hypopigmentation syndrome of Preus type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Tungland Bellman syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe early childhood onset retinal dystrophy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital alpha-2-antiplasmin deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Multicentric osteolysis nodulosis arthropathy spectrum (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pelizaeus Merzbacher like disease (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Renal tubulopathy with encephalopathy and liver failure syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Bietti's crystalline retinopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of leukotriene C4 synthase (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebellar ataxia Cayman type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital plasminogen activator inhibitor deficiency type 1 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lissencephaly syndrome Norman Roberts type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neurogenic arthrogryposis multiplex congenita (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Encephalopathy due to sulfite oxidase deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive primary microcephaly (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital deficiency of alpha-fetoprotein (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Epidermolysis bullosa simplex with pyloric atresia Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Joubert syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hyperprolinemia type 2 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Isolated right ventricular hypoplasia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Behr syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive sideroblastic anemia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sonoda syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Moyamoya disease with early onset achalasia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial median cleft of upper and lower lip (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mevalonic aciduria (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acromesomelic dysplasia Maroteaux type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Achalasia microcephaly syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary arterial and articular multiple calcification syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 7 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 6 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 5 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 4 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 3 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 1 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 8 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oro-facial digital syndrome type 9 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Carbohydrate deficient glycoprotein syndrome type 1m (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Primary immunodeficiency syndrome due to p14 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital analbuminemia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Generalized peeling skin syndrome (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Component of oligomeric golgi complex 1 congenital disorder of glycosylation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Zellweger-like syndrome without peroxisomal anomaly (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some

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