FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Macrosomia, microphthalmia, cleft palate syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital lethal myopathy Compton North type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Nestor Guillermo progeria syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Craniosynostosis and dental anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive frontotemporal pachygyria (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Distal arthrogryposis type 5D (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability with strabismus syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 59 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe neurodegenerative syndrome with lipodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Childhood-onset spasticity with hyperglycinemia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Epidermolysis bullosa simplex due to BP230 deficiency (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Congenital chronic diarrhea with protein-losing enteropathy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive retinal dystrophy due to retinol transport defect (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Chudley McCullough syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Transient infantile hypertriglyceridemia and hepatosteatosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Craniofacial dysplasia osteopenia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Genitopalatocardiac syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondylo-megaepiphyseal-metaphyseal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pitt Hopkins-like syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pyknodysostosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
NPHP3-related Meckel-like syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cataract, hearing loss, severe developmental delay syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Osteopetrosis hypogammaglobulinemia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pancytopenia with developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease type 2R Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Polyglucosan body myopathy type 1 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial angiolipomatosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fatal post-viral neurodegenerative disorder Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acute infantile liver failure with multisystemic involvement syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Growth retardation, mild developmental delay, chronic hepatitis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Temtamy preaxial brachydactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 14 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 9 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 17 (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe intellectual disability and progressive spastic paraplegia Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Severe dermatitis, multiple allergies, metabolic wasting syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 27 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Classical-like Ehlers-Danlos syndrome type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal polymalformative syndrome Boissel type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Immunodeficiency due to CD25 deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cystinuria, type 1 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Primary CD59 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Susceptibility to viral and mycobacterial infection Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebral atrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Isolated ATP synthase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Leydig cell agenesis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 69 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
T-cell receptor alpha-beta-positive T-cell deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 60 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 71 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Chondrodysplasia with joint dislocations gPAPP type (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some

Start Previous Page 11 of 17 Next End

This concept is not in any reference sets

Back to Start