FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.4  |  FHIR Version n/a  User: [n/a]

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
Pili torti onychodysplasia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Thiamine-responsive encephalopathy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Tangier disease (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive hyperimmunoglobulin M syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive retinitis pigmentosa est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Native American myopathy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Talo-patello-scaphoid osteolysis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Recessive dystrophic epidermolysis bullosa (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pierson syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive aplasia cutis congenita of limb (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Trichothiodystrophy (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Thymic, renal, anal, lung dysplasia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 44 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 46 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 53 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 54 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
paraplégie spastique autosomique récessive type 57 est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive bestrophinopathy est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 55 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Kufor Rakeb syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Schimke immuno-osseous dysplasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Retinohepatoendocrinologic syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Growth delay due to insulin-like growth factor type 1 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Carbohydrate deficient glycoprotein syndrome type 1o (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Charcot-Marie-Tooth disease type 2B1 (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Infantile malignant osteopetrosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Neuroectodermal melanolysosomal disease (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type 1f (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Carbohydrate deficient glycoprotein syndrome type 2a (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Laron syndrome with immunodeficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Keratin 14 related epidermolysis bullosa simplex (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Keutel syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Junctional epidermolysis bullosa non-Herlitz type (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile onset spinocerebellar ataxia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile choroidocerebral calcification syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 5 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hepatic glycogen synthase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Muscle and heart glycogen synthase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Polysyndactyly and cardiac malformation syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type 1e (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type 1j (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Craniomicromelic syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Craniometadiaphyseal dysplasia wormian bone type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Craniolenticulosutural dysplasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive omodysplasia (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
5-amino-4-imidazole carboxamide ribosiduria (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Defect of purinergic receptor p2y G protein-coupled 12 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mucolipidosis type IV (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital muscular dystrophy Paradas type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia Beauce type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive faciodigitogenital syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive ataxia due to ubiquinone deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive muscular dystrophy not predominantly limb girdle est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Carbohydrate deficient glycoprotein syndrome type 2d (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability Buenos Aires type (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
syndrome d'ataxie cérébelleuse, déficience intellectuelle, atrophie optique, anomalies cutanées est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Neurofaciodigitorenal syndrome (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Coenzyme Q10 deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some

Start Previous Page 13 of 16 Next End

This concept is not in any reference sets

Back to Start