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363070008: Developmental hereditary disorder (disorder)

Status: current, Defined. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482205012 Developmental hereditary disorder en Synonym Active Case insensitive SNOMED CT core
754853019 Developmental hereditary disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core

2064 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Developmental hereditary disorder Pathological process Pathological developmental process true Inferred relationship Some 1
Developmental hereditary disorder Is a Hereditary disease true Inferred relationship Some
Developmental hereditary disorder Is a Developmental disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Book syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Ballard syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Bamforth Lazarus syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Bartsocas Papas syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Cataract and microcornea syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Catel Manzke syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital hereditary facial paralysis with variable hearing loss syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital intrauterine infection-like syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Distal limb deficiency with micrognathia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Dyschondrosteosis and nephritis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
EDICT syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Guttmacher syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hennekam Beemer syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Matthew Wood syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Thickened earlobe with conductive deafness syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Toriello Carey syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Skeletal dysplasia with intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Familial caudal dysgenesis Is a True Developmental hereditary disorder Inferred relationship Some
PTEN hamartoma tumour syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Endocrine-cerebro-osteodysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Faciocardiorenal syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Fallot complex with intellectual disability and growth delay syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hypotrichosis and intellectual disability syndrome Lopes type Is a True Developmental hereditary disorder Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcephalic osteodysplastic dysplasia Saul Wilson type Is a True Developmental hereditary disorder Inferred relationship Some
Microlissencephaly micromelia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Multinodular goitre, cystic kidney, polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Nasopalpebral lipoma coloboma syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Native American myopathy Is a True Developmental hereditary disorder Inferred relationship Some
Non-progressive cerebellar ataxia with intellectual disability Is a True Developmental hereditary disorder Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair Is a True Developmental hereditary disorder Inferred relationship Some
Polydactyly of index finger Is a True Developmental hereditary disorder Inferred relationship Some
Polyvalvular heart disease syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Pierson syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Pili torti onychodysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
PHAVER syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Phosphoribosylpyrophosphate synthetase superactivity Is a True Developmental hereditary disorder Inferred relationship Some
Pierre Robin sequence faciodigital anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Renier Gabreels Jasper syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Retinal degeneration, nanophthalmos, glaucoma syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Ramos Arroyo syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Trichothiodystrophy Is a True Developmental hereditary disorder Inferred relationship Some
Toriello Lacassie Droste syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Thymic, renal, anal, lung dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Thoracolaryngopelvic dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Talo-patello-scaphoid osteolysis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Stern Lubinsky Durrie syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
SERKAL syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Grant syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Seizures and intellectual disability due to hydroxylysinuria syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Schimke immuno-osseous dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Richieri Costa Pereira syndrome Is a True Developmental hereditary disorder Inferred relationship Some
RHYNS syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency Is a True Developmental hereditary disorder Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Polysyndactyly and cardiac malformation syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Patterson Stevenson Fontaine syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Neuroectodermal melanolysosomal disease Is a True Developmental hereditary disorder Inferred relationship Some
Nephrosis, deafness, urinary tract, digital malformation syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
MOMO syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism due to ZNF335 deficiency Is a True Developmental hereditary disorder Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria Is a True Developmental hereditary disorder Inferred relationship Some
8q13 microdeletion syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome Is a True Developmental hereditary disorder Inferred relationship Some
LIG4 syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Laryngeal abductor paralysis with intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Laron syndrome with immunodeficiency Is a True Developmental hereditary disorder Inferred relationship Some
Kleefstra syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Keutel syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Keratosis palmaris et plantaris with clinodactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Infantile choroidocerebral calcification syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hypertelorism Teebi type Is a True Developmental hereditary disorder Inferred relationship Some
Hereditary hypotrichosis with recurrent skin vesicles syndrome Is a True Developmental hereditary disorder Inferred relationship Some

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