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363070008: Developmental hereditary disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

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

2110 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Developmental hereditary disorder Is a Hereditary disease true Inferred relationship Some
Developmental hereditary disorder Is a Developmental disorder true Inferred relationship Some
Developmental hereditary disorder Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Book syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Ballard syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Bamforth Lazarus syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive popliteal pterygium syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Cataract and microcornea syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Catel Manzke syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Congenital intrauterine infection-like syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Dyschondrosteosis and nephritis syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) 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 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Thickened earlobe with conductive deafness syndrome (disorder) 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 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Familial caudal dysgenesis (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
PTEN hamartoma tumor syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Endocrine-cerebro-osteodysplasia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Faciocardiorenal syndrome (disorder) 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 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Microlissencephaly micromelia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Nasopalpebral lipoma coloboma syndrome (disorder) 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 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Polydactyly of index finger (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Polyvalvular heart disease syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Pierson syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Pili torti onychodysplasia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Phosphoribosylpyrophosphate synthetase superactivity (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Pierre Robin sequence faciodigital anomaly syndrome (disorder) 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 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Ramos Arroyo syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Trichothiodystrophy (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Aplasia cutis congenita with epibulbar dermoid syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Thymic, renal, anal, lung dysplasia syndrome (disorder) 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 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Stern Lubinsky Durrie syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) 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 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) 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 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Schimke immuno-osseous dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Polysyndactyly and cardiac malformation syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Neuroectodermal melanolysosomal disease (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) 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 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
8q13 microdeletion syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Ligase 4 syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Laron syndrome with immunodeficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Kleefstra syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Keutel syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Infantile choroidocerebral calcification syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hypertelorism Teebi type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some

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