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85995004: Autosomal recessive hereditary disorder (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
142575014 Recessive hereditary disorder, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
142576010 Hereditary disorder trait, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
201251014 Recessive hereditary disorder (autosomal) en Synonym Active Case insensitive SNOMED CT core
201252019 Hereditary disorder trait (autosomal) en Synonym Active Case insensitive SNOMED CT core
201253012 Autosomal recessive hereditary disorder en Synonym Active Case insensitive SNOMED CT core
828165010 Autosomal recessive hereditary disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core

1928 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
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebellar ataxia with oculomotor apraxia type 4 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
PLAA-associated neurodevelopmental disorder Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe myopia, generalised joint laxity, short stature syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
NKX6-2-related autosomal recessive hypomyelinating leucodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
HELIX syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive familial isolated hypoparathyroidism Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oculomotor apraxia - Cogan type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Primary dystonia DYT27 type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fetal encasement syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Isolated neonatal sclerosing cholangitis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Nephronophthisis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism, insulin resistance syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
RARS-related autosomal recessive hypomyelinating leucodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Giant axonal neuropathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Auditory neuropathy, optic atrophy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
PRUNE1-related neurological syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset calcifying leucoencephalopathy, skeletal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neonatal epileptic encephalopathy due to glutaminase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
3-methylglutaconic aciduria type 9 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Interstitial lung disease due to ABCA3 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 24 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autoimmune haemolytic anaemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Anterior maxillary protrusion, strabismus, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Syndromic congenital sodium diarrhoea Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Polyglucosan body myopathy type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive myoclonic epilepsy type 9 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Complex lethal osteochondrodysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
PCNA-related progressive neurodegenerative photosensitivity syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
GCGR-related hyperglucagonaemia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal brain and heart developmental defects syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Heme oxygenase-1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial congenital nasolacrimal duct obstruction Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Frontorhiny Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Phenylketonuria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Megaconial congenital muscular dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
CNTNAP2-related developmental and epileptic encephalopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mannosephosphate isomerase congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
46,XY disorder of sex development due to isolated 17,20-lyase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital isolated adrenocorticotropic hormone deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Haemoglobin E/beta thalassaemia disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Goldmann-Favre syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
MEPAN syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
DONSON-related microcephaly, short stature, limb abnormalities spectrum Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Dermatosparaxis Ehlers-Danlos syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Severe primary trimethylaminuria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
46,XX ovarian dysgenesis, short stature syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Caroli syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Regressive spondylometaphyseal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
PYCR2-related microcephaly, progressive leucoencephalopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
NDE1-related microhydranencephaly Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cerebellar-facial-dental syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
PLACK syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Short stature, developmental delay, congenital heart defect syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Osteosclerotic metaphyseal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Alkaline ceramidase 3 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fatty acyl-CoA reductase 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital insensitivity to pain with severe intellectual disability Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital axonal neuropathy with encephalopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
NAD(P)HX dehydratase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
NAD(P)HX epimerase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
USP18 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Classical-like Ehlers-Danlos syndrome type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cystathioninuria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Oculocerebrodental syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital myopathy with reduced type 2 muscle fibres Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary sensory autonomic neuropathy type IIC Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Upshaw-Schulman syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
WARS2-related combined oxidative phosphorylation defect Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
EVEN-plus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta Is a True Autosomal recessive hereditary disorder Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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