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85995004: Autosomal recessive hereditary disorder (disorder)

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

Descriptions:

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

1931 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 Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 24 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autoimmune hemolytic anemia, autoimmune thrombocytopenia, primary immunodeficiency syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Anterior maxillary protrusion, strabismus, intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Syndromic congenital sodium diarrhea Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Polyglucosan body myopathy type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Progressive myoclonic epilepsy type 9 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Complex lethal osteochondrodysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Glucagon receptor-related hyperglucagonemia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lethal brain and heart developmental defects syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Heme oxygenase-1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Familial congenital nasolacrimal duct obstruction Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Frontorhiny Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Phenylketonuria Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Megaconial congenital muscular dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Contactin associated protein 2-related developmental and epileptic encephalopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mannosephosphate isomerase congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
46,XY disorder of sex development due to isolated 17,20-lyase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital isolated adrenocorticotropic hormone deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hemoglobin E/beta thalassemia disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Goldmann-Favre syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Dermatosparaxis Ehlers-Danlos syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Severe primary trimethylaminuria Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
46,XX ovarian dysgenesis, short stature syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Caroli syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Regressive spondylometaphyseal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
nudE neurodevelopment protein 1-related microhydranencephaly Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cerebellar-facial-dental syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Short stature, developmental delay, congenital heart defect syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Osteosclerotic metaphyseal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Leukodystrophy due to alkaline ceramidase 3 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Fatty acyl-coenzyme A reductase 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital insensitivity to pain with severe intellectual disability Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital axonal neuropathy with encephalopathy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
NAD(P)HX dehydratase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
NAD(P)HX epimerase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ubiquitin specific peptidase 18 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Classical-like Ehlers-Danlos syndrome type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cystathioninuria Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Oculocerebrodental syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital myopathy with reduced type 2 muscle fibers Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary sensory autonomic neuropathy type IIC Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Upshaw-Schulman syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital vertebral, cardiac, renal anomalies syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Polyendocrine polyneuropathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Infantile multisystem neurologic, endocrine, pancreatic disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Peters-plus syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier

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