FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.4  |  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

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
Rolland-Debuqois syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Acrocardiofacial syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pachydermoperiostosis syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive Robinow syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Bilateral frontoparietal polymicrogyria (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital muscular dystrophy type 1D large gene mutation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type 1i est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Type 3 lissencephaly est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Phenylketonuria due to tetrahydrobiopterin deficiency est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Rothmund Thomson syndrome type 1 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Rothmund Thomson syndrome type 2 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Stickler syndrome type 4 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Wrinkly skin syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile systemic hyalinosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome polyglandulaire auto-immun de type 1 (trouble) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Acute neuronopathic Gaucher's disease est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital secretory diarrhea, chloride type est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Vanishing white matter disease (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Kerasin thesaurismosis est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Hemoglobin C beta thalassemia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Citrullinemia type I (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Curry-Hall syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive cerebellar ataxia with hypogonadism est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary dysautonomia with motor neuropathy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Endosteal hyperostoses with cerebellar hypoplasia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
dystrophie endothéliale congénitale héréditaire type II est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive intrahepatic cholestasis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
déficit en alpha-N-acétylgalactosaminidase est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Beta-D-mannosidosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Tetrahydrobiopterin synthesis defect (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Delta-4-3-oxosteroid-5-beta-reductase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Benign ethnic neutropenia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Fatty acid oxidation defect (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive Charcot-Marie-Tooth disease type 2 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive epidermolysis bullosa simplex est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive distal hereditary motor neuropathy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive Emery-Dreifuss muscular dystrophy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive familial Parkinson disease est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive bilateral optic atrophy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive sick sinus syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile glycine encephalopathy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Generalized congenital lipodystrophy with myopathy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Haemoglobin Bart's hydrops syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary congenital prekallikrein deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Acromesomelic dysplasia Hunter-Thompson type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
XK aprosencephaly syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Tumoral calcinosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Isomerism of right atrial appendage (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Glycogen storage disease due to muscle beta-enolase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ghosal hematodiaphyseal dysplasia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Malonic aciduria est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
MARCH syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Tall stature, intellectual disability, renal anomalies syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Childhood-onset basal ganglia degeneration syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile-onset generalised dyskinesia with orofacial involvement est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset epilepsy, intellectual disability, brain anomalies syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
TBCK-related intellectual disability syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 76 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Glycogen storage disease, type VI est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Adenylosuccinate synthetase-like 1-related distal myopathy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pili torti-deafness syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary sensory and autonomic neuropathy type 8 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 30 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 29 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 27 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive mendelian susceptibility to mycobacterial disease due to complete RAR related orphan receptor C receptor mutation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Multiple carboxylase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Acyl-coenzyme A oxidase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Glutaric aciduria, type 2 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 26 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 25 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 23 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Interleukin 21 related infantile inflammatory bowel disease (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Juvenile haemochromatosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 78 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hyperphenylalanineaemia due to DNAJC12 deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mohr syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some

Start Previous Page 4 of 16 Next End

This concept is not in any reference sets

Back to Start