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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
142575014 Recessive hereditary disorder, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
142576010 Hereditary disorder trait, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
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
4671271000241119 maladie héréditaire récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1967 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
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

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