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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
Long thumb brachydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spastic paraplegia, glaucoma, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Triphalangeal thumb and dislocation of patella syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephalus, glomerulonephritis, marfanoid habitus syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Carney complex Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Megalocornea with intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephalus, lymphedema, chorioretinopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
XY type gonadal dysgenesis with associated anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Summitt syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
46,XX disorder of sex development with skeletal anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
3-phosphoglycerate dehydrogenase deficiency infantile form Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ectodermal dysplasia trichoodontoonychial type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Isolated congenital megalocornea Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Renal coloboma syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Nance-Horan syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked periventricular heterotopia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Tetra-amelia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Desmosterolosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Bowen-Conradi syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Partial androgen insensitivity syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Temtamy preaxial brachydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant aplasia and myelodysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Fibroblast growth factor receptor 2-related bent bone dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Blepharophimosis, intellectual disability syndrome, Verloes type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Skin fragility, wooly hair, palmoplantar keratoderma syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Severe intellectual disability and progressive spastic paraplegia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Atypical hypotonia cystinuria syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lethal polymalformative syndrome Boissel type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Foveal hypoplasia with presenile cataract syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Brachytelephalangic chondrodysplasia punctata Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant prognathism of mandible Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant primary microcephaly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 9 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital neutropenia, myelofibrosis, nephromegaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 10 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Multisystemic smooth muscle dysfunction syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Male emopamil-binding protein disorder with neurological defect Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lethal arteriopathy syndrome due to fibulin-4 deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
High bone mass osteogenesis imperfecta Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked osteoporosis with fractures Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked calvarial hyperostosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Xp22.13p22.2 duplication syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Occipital pachygyria and polymicrogyria Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Chondrodysplasia with joint dislocations gPAPP type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hereditary cryohydrocytosis with reduced stomatin Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly, short stature, retinitis pigmentosa syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial adrenal hypoplasia with absent pituitary luteinizing hormone Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Extensor tendons of finger anomalies Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Richieri Costa-da Silva syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Thoracic dysplasia and hydrocephalus syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Thoracomelic dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Macrocephaly, intellectual disability, autism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Subaortic stenosis and short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Stickler syndrome type 3 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Holzgreve syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Megalocornea, spherophakia, secondary glaucoma syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hereditary isolated aplastic anemia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Reunion Island Larsen-like syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability due to glutamate ionotropic receptor AMPA type subunit 3 mutations Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
External auditory canal atresia, vertical talus, hypertelorism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondylometaphyseal dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Otopalatodigital syndrome spectrum disorder Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Antecubital pterygium syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cobblestone lissencephaly without muscular or ocular involvement Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hyperekplexia epilepsy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Aneurysm osteoarthritis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ankyrin 3 related intellectual disability, sleep disturbance syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Muenke syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Bifid nose Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Osteopetrosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital ichthyosis of skin Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Albinism Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier

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