85995004: Autosomal recessive hereditary disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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
Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder)	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 hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder)	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 (disorder)	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
Glucagon receptor-related hyperglucagonemia (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Lethal brain and heart developmental defects syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Heme oxygenase-1 deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Familial congenital nasolacrimal duct obstruction (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Frontorhiny (disorder)	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 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital isolated adrenocorticotropic hormone deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hemoglobin E/beta thalassemia 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 (disorder)	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
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Dermatosparaxis Ehlers-Danlos syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Severe primary trimethylaminuria (disorder)	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 (disorder)	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 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder)	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 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome (disorder)	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
Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Fatty acyl-coenzyme A reductase 1 deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital insensitivity to pain with severe intellectual disability (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder)	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 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
NAD(P)HX epimerase deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
USP18 deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder)	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 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital myopathy with reduced type 2 muscle fibers	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 (disorder)	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 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior 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 (disorder)	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
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder)	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
Polyendocrine polyneuropathy syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Pena-Shokeir syndrome type I (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Marden Walker syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Familial gastric type 1 neuroendocrine neoplasm	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Fish-eye disease	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Friedreich ataxia	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spondylometaphyseal dysplasia, corneal dystrophy syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Predisposition to severe viral infection due to interferon regulatory factor 7 deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive extra-oral halitosis	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Leukocyte adhesion deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Glutathione synthetase deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hereditary xanthinuria	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Spongy degeneration of central nervous system	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Metachromatic leucodystrophy (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital insensitivity to pain, anosmia, neuropathic arthropathy	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Congenital cataract microcornea with corneal opacity	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy type 6 (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial JAK1 deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Primary triglyceride deposit cardiomyovasculopathy (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Combined oxidative phosphorylation defect type 39	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hyperimmunoglobulinemia D with periodic fever (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Galactose epimerase deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some

Start Previous Page 16 of 17 End

This concept is not in any reference sets

Back to Start

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
2599051000052111	autosomalt recessiv ärftlig sjukdom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)