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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
Mohr syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Orofacial-digital syndrome III est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Orofacial-digital syndrome IV est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to GINS complex subunit 1 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to transferrin receptor deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
NEK9-related lethal skeletal dysplasia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Dense deposit disease (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Leucoencephalopathy with calcifications and cysts est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
GNB5-related intellectual disability, cardiac arrhythmia syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to CARMIL2 deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Growth delay, intellectual disability, hepatopathy syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to ITK deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to CD70 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Predisposition to invasive fungal disease due to CARD9 deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile inflammatory bowel disease with neurological involvement (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Classical pantothenate kinase associated neurodegeneration est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Atypical pantothenate kinase associated neurodegeneration (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Haemochromatosis type 1 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Glycogen storage disease due to lactate dehydrogenase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Aicardi Goutieres syndrome type 2 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Aicardi Goutieres syndrome type 3 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Aicardi Goutieres syndrome type 4 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Aicardi Goutieres syndrome type 5 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mucopolysaccharidosis-like plus disease est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Stromme syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Sugarman brachydactyly (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
SLC39A8 congenital disorder of glycosylation est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Isolated generalized anhidrosis with normal sweat glands est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, epilepsy, extrapyramidal syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
VPS11-related autosomal recessive hypomyelinating leukodystrophy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Seizures, scoliosis, macrocephaly syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Short stature, brachydactyly, obesity, global developmental delay syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive hereditary spastic paraplegia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Glycogen storage disease due to aldolase A deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Severe autosomal recessive macrothrombocytopenia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of galactose mutarotase est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial phosphate carrier deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 28 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Basel Vanagaite Smirin Yosef syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Sanjad Sakati syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive isolated optic atrophy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Amish nemaline myopathy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to DOCK8 deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive dysgenesis of anterior segment of eye est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Susceptibility to infection due to tyrosine kinase 2 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency, enteropathy spectrum est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
QRSL1-related combined oxidative phosphorylation defect est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Primary immunodeficiency with multifaceted aberrant lymphoid immunity est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Dedicator of cytokinesis 2 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Susceptibility to localized juvenile periodontitis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Familial chylomicronemia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive amyotrophic lateral sclerosis type 1 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
CIDEC-related familial partial lipodystrophy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
LIPE-related familial partial lipodystrophy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
COG2-related congenital disorder of glycosylation est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive central core disease est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Juvenile amyotrophic lateral sclerosis (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital fiber-type disproportion myopathy due to ZAK mutation est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein N mutation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lymphedema, posterior choanal atresia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Eye defects, arachnodactyly, cardiopathy syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism type II est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive congenital fibre-type disproportion myopathy due to ACTA1 mutation est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive cerebello-cerebral atrophy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Gitelman syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital autosomal recessive small-platelet thrombocytopenia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Fever-associated acute infantile liver failure syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Transmembrane protein 199 congenital disorder of glycosylation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
4H leukodystrophy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Progeroid features, hepatocellular carcinoma predisposition syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebral ventriculomegaly, cystic kidney disease est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial pyruvate carrier deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some

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