FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.6  |  FHIR Version n/a  User: [n/a]

363070008: Developmental hereditary disorder (disorder)

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

Descriptions:

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

2062 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 Existential restriction modifier
Developmental hereditary disorder Is a Developmental disorder true Inferred relationship Existential restriction modifier
Developmental hereditary disorder Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Agnathia, holoprosencephaly, situs inversus syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Book syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ballard syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Bamforth Lazarus syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive popliteal pterygium syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataract with hypertrichosis and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataract, nephropathy, encephalopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cataract and microcornea syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Catel Manzke syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital hereditary facial paralysis with variable hearing loss syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital intrauterine infection-like syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Distal limb deficiency with micrognathia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Duane anomaly, myopathy, scoliosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Dyschondrosteosis and nephritis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Juvenile cataract, microcornea, renal glucosuria syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Matthew Wood syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Macular coloboma, cleft palate, hallux valgus syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Thickened earlobe with conductive deafness syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Toriello Carey syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Skeletal dysplasia with intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial caudal dysgenesis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
PTEN hamartoma tumor syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Endocrine-cerebro-osteodysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Faciocardiorenal syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Fallot complex with intellectual disability and growth delay syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hypotrichosis with juvenile macular degeneration syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hypotrichosis and intellectual disability syndrome Lopes type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microbrachycephaly, ptosis, cleft lip syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephalic osteodysplastic dysplasia Saul Wilson type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microlissencephaly micromelia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Multinodular goiter, cystic kidney, polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Nasopalpebral lipoma coloboma syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Native American myopathy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Non-progressive cerebellar ataxia with intellectual disability Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Noonan syndrome-like disorder with loose anagen hair Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Polydactyly of index finger Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Polyvalvular heart disease syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pierson syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pili torti onychodysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Phosphoribosylpyrophosphate synthetase superactivity Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pierre Robin sequence faciodigital anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Renier Gabreels Jasper syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Retinal degeneration, nanophthalmos, glaucoma syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ramos Arroyo syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Trichothiodystrophy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Aplasia cutis congenita with epibulbar dermoid syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Thymic, renal, anal, lung dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Thoracolaryngopelvic dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Talo-patello-scaphoid osteolysis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Syndactyly, telecanthus, anogenital and renal malformation syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Steroid dehydrogenase deficiency and dental anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Stern Lubinsky Durrie syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Split hand, split foot malformation with sensorineural hearing loss syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Sex reversion, kidney, adrenal and lung dysgenesis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Grant syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Seizures and intellectual disability due to hydroxylysinuria syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Schimke immuno-osseous dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Polysyndactyly and cardiac malformation syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Patterson Stevenson Fontaine syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Neuroectodermal melanolysosomal disease Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Nephrosis, deafness, urinary tract, digital malformation syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Macrocephaly, obesity, mental disability, ocular abnormality syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microspherophakia with metaphyseal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
8q13 microdeletion syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ligase 4 syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Laryngeal abductor paralysis with intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Laron syndrome with immunodeficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Kleefstra syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Keutel syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Palmoplantar keratoderma with clinodactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Infantile choroidocerebral calcification syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hypertelorism Teebi type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier

Start Previous Page 6 of 15 Next End

This concept is not in any reference sets

Back to Start