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
Acrocephalopolysyndactyly type II Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Deafness, small bowel diverticulosis, neuropathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Preaxial polydactyly, colobomata, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcephalus, digital anomaly, intellectual disability syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Dandy-Walker malformation with postaxial polydactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1w Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1x Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Aniridia, renal agenesis, psychomotor retardation syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Acrocephalopolysyndactyly type IV Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 8 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital disorder of glycosylation type 1q Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
XY type gonadal dysgenesis with associated anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Summitt syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
46,XX disorder of sex development with skeletal anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autism spectrum disorder, epilepsy, arthrogryposis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Deficiency of alpha-ketoglutarate dehydrogenase Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
3-phosphoglycerate dehydrogenase deficiency juvenile form Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
3-phosphoglycerate dehydrogenase deficiency infantile form Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pyridoxine-dependent epilepsy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Gorlin-Chaudhry-Moss syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Refetoff syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Peroxisome biogenesis disorder Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Isolated follicle stimulating hormone deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Classical cystic fibrosis Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Atypical cystic fibrosis Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Subclinical cystic fibrosis Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 13 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Grubben, De Cock, Borghgraef syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 15 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 7 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 9 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 21 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Conductive deafness, ptosis, skeletal anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital myopathy with myasthenic-like onset Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Connective tissue disorder due to lysyl hydroxylase-3 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Fetal akinesia, cerebral and retinal hemorrhage syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia with late-onset spasticity Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Progressive myoclonic epilepsy with dystonia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spectrin-associated autosomal recessive cerebellar ataxia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cerebrofacioarticular syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 48 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 5A Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 28 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ichthyosis prematurity syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lethal multiple pterygium syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Distal hereditary motor neuropathy Jerash type Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
White forelock with malformations syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lichtenstein syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypermethioninemia due to deficiency of glycine N-methyltransferase Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypotonia, speech impairment, severe cognitive delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Macrocephaly and developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Oculoauricular syndrome Schorderet type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 14 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pachygyria, intellectual disability, epilepsy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Short stature with delayed bone age due to thyroid hormone metabolism deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Renal hepatic pancreatic dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Myosclerosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Primary intraosseous venous malformation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Wooly hair with palmoplantar keratoderma syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Action myoclonus renal failure syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia anauxetic type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Familial isolated trichomegaly Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 15 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 35 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
7p22.1 microduplication syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 21 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 43 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive myogenic arthrogryposis multiplex congenita Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
3-methylglutaconic aciduria type 7 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital muscular dystrophy type 1B Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Constitutional mismatch repair deficiency syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Inherited isolated adrenal insufficiency due to partial cytochrome P450 family 11 subfamily A member 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive spastic paraplegia type 62 Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia with axonal neuropathy type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier

Start Previous Page 9 of 16 Next End

This concept is not in any reference sets

Back to Start