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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
Lethal polymalformative syndrome Boissel type est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Immunodeficiency due to CD25 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cystinuria, type 1 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Primary CD59 deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Susceptibility to viral and mycobacterial infection est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebral atrophy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Isolated ATP synthase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Leydig cell agenesis (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 69 est un(e) (attribut) 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) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
T-cell receptor alpha-beta-positive T-cell deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 60 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 71 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Chondrodysplasia with joint dislocations gPAPP type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 66 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive nail dysplasia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Gemignani syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia due to STUB1 deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
2-aminoadipic 2-oxoadipic aciduria (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Fatal infantile hypertonic myofibrillar myopathy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Occipital pachygyria and polymicrogyria (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lipoic acid synthetase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spondylometaphyseal dysplasia A4 type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile cerebellar and retinal degeneration (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 10 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Distal myopathy with anterior tibial onset est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Karyomegalic interstitial nephritis (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lipoyl transferase 1 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Recessive mitochondrial ataxia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Thoracic dysplasia and hydrocephalus syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Richieri Costa-da Silva syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Parkinsonian pyramidal syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive myoclonic epilepsy type 8 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 14 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Progressive myoclonic epilepsy type 3 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
RIDDLE syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive myoclonic epilepsy type 6 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Recurrent Neisseria infection due to factor D deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Parana hard skin syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Leigh syndrome with nephrotic syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Subaortic stenosis and short stature syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive optic atrophy type 7 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Distal anoctaminopathy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Holzgreve syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Thoracomelic dysplasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation deficiency type 20 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Junctional epidermolysis bullosa (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Oculocutaneous albinism est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Polycystic kidney disease, infantile type est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Reunion Island Larsen-like syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Obesity due to CEP19 deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Erythropoietic uroporphyria associated with myeloid malignancy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 11 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
PGM1-related congenital disorder of glycosylation est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Obesity due to SIM1 deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Immunodeficiency with factor I anomaly (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive brachyolmia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 56 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive secondary polycythemia not associated with Von Hippel Lindau gene (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Navajo neurohepatopathy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of interleukin 36 receptor antagonist est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic ataxia with leukoencephalopathy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Familial infantile myoclonic epilepsy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined immunodeficiency due to interleukin 21 receptor deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some

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