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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
Methylmalonic aciduria due to transcobalamin receptor defect (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive infantile hypercalcemia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
LAMB2-related infantile-onset nephrotic syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Complement component 3 deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de Jawad est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Young adult-onset distal hereditary motor neuropathy est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to STK4 deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital nephrotic syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
RAB18, member RAS oncogene family deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Poikiloderma with neutropenia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de dysplasie spondylo-épimétaphysaire-dentition anormale est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome spondylocheirodysplastic type est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de polydactylie postaxiale-anomalies dentaires et vertébrales est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Thakker Donnai syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
dysplasie spondylo-épimétaphysaire type Geneviève est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Zechi Ceide syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Macrosomia, microphthalmia, cleft palate syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital lethal myopathy Compton North type est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Nestor Guillermo progeria syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Craniosynostosis and dental anomalies syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive frontotemporal pachygyria (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Distal arthrogryposis type 5D (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability with strabismus syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
paraplégie spastique autosomique récessive type 59 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome neurodégénératif sévère avec lipodystrophie est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Childhood-onset spasticity with hyperglycinemia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Epidermolysis bullosa simplex due to BP230 deficiency (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
diarrhée chronique congénitale avec entéropathie exsudative est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive retinal dystrophy due to retinol transport defect (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Chudley McCullough syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Transient infantile hypertriglyceridemia and hepatosteatosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Craniofacial dysplasia osteopenia syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Genitopalatocardiac syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spondylo-megaepiphyseal-metaphyseal dysplasia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pitt Hopkins-like syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pyknodysostosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
NPHP3-related Meckel-like syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de cataracte congénitale-surdité-retard de développement sévère est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Osteopetrosis hypogammaglobulinemia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pancytopenia with developmental delay syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease type 2R est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Polyglucosan body myopathy type 1 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Familial angiolipomatosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Fatal post-viral neurodegenerative disorder est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Acute infantile liver failure with multisystemic involvement syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Growth retardation, mild developmental delay, chronic hepatitis syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Temtamy preaxial brachydactyly syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 14 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 9 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 17 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Severe intellectual disability and progressive spastic paraplegia est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de dermatite sévère-allergies multiples-cachexie métabolique est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 27 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
syndrome d'Ehlers-Danlos par déficit en tenascin-X est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal polymalformative syndrome Boissel type est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some

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