FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

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
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Macrosomia, microphthalmia, cleft palate syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital lethal myopathy Compton North type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Nestor Guillermo progeria syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Craniosynostosis and dental anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Xylosyltransferase 1 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive frontotemporal pachygyria Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, facial dysmorphism, hand anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Distal arthrogryposis type 5D Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability with strabismus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 59 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Severe neurodegenerative syndrome with lipodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Childhood-onset spasticity with hyperglycinemia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Epidermolysis bullosa simplex due to exophilin 5 deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Epidermolysis bullosa simplex due to BP230 deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital chronic diarrhea with protein-losing enteropathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Progressive retinal dystrophy due to retinol transport defect Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lethal occipital encephalocele, skeletal dysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Neonatal inflammatory skin and bowel disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Chudley McCullough syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Transient infantile hypertriglyceridemia and hepatosteatosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Craniofacial dysplasia osteopenia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Genitopalatocardiac syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Porencephaly, microcephaly, bilateral congenital cataract syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spondylo-megaepiphyseal-metaphyseal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pitt Hopkins-like syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Sterile multifocal osteomyelitis with periostitis and pustulosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pyknodysostosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Nephrocystin 3-related Meckel-like syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataract, hearing loss, severe developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Osteopetrosis hypogammaglobulinemia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pancytopenia with developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease type 2R Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Polyglucosan body myopathy type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Familial angiolipomatosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Fatal post-viral neurodegenerative disorder Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Acute infantile liver failure with multisystemic involvement syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Growth retardation, mild developmental delay, chronic hepatitis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Temtamy preaxial brachydactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypomyelination with brain stem and spinal cord involvement and leg spasticity Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 14 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 9 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 17 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Severe intellectual disability and progressive spastic paraplegia Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Severe dermatitis, multiple allergies, metabolic wasting syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Blepharophimosis, intellectual disability syndrome, Verloes type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 27 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome due to tenascin-X deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lethal polymalformative syndrome Boissel type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Immunodeficiency due to CD25 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cystinuria, type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Primary CD59 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Susceptibility to viral and mycobacterial infection Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive cerebral atrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Isolated adenosine triphosphate synthase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Leydig cell agenesis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 69 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
T-cell receptor alpha-beta-positive T-cell deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 60 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly, short stature, retinitis pigmentosa syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 71 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Chondrodysplasia with joint dislocations gPAPP type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier

Start Previous Page 11 of 16 Next End

This concept is not in any reference sets

Back to Start