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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
Long thumb brachydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Spastic paraplegia, glaucoma, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Triphalangeal thumb and dislocation of patella syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Carney complex (disorder) Is a False Developmental hereditary disorder Inferred relationship Some
Megalocornea with intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcephalus, lymphedema, chorioretinopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Summitt syndrome Is a False Developmental hereditary disorder Inferred relationship Some
46,XX disorder of sex development with skeletal anomalies syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Ectodermal dysplasia trichoodontoonychial type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Isolated congenital megalocornea (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Renal coloboma syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Nance-Horan syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
X-linked periventricular heterotopia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Tetra-amelia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Desmosterolosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Bowen-Conradi syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
KBG syndrome Is a True Developmental hereditary disorder Inferred relationship Some
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Partial androgen insensitivity syndrome (disorder) Is a False Developmental hereditary disorder Inferred relationship Some
Temtamy preaxial brachydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant aplasia and myelodysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Severe intellectual disability and progressive spastic paraplegia Is a True Developmental hereditary disorder Inferred relationship Some
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Atypical hypotonia cystinuria syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Lethal polymalformative syndrome Boissel type Is a True Developmental hereditary disorder Inferred relationship Some
Foveal hypoplasia with presenile cataract syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Brachytelephalangic chondrodysplasia punctata (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant prognathism of mandible (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant primary microcephaly Is a True Developmental hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 9 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 10 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) Is a False Developmental hereditary disorder Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Male emopamil-binding protein disorder with neurological defect Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
High bone mass osteogenesis imperfecta Is a True Developmental hereditary disorder Inferred relationship Some
X-linked osteoporosis with fractures Is a True Developmental hereditary disorder Inferred relationship Some
X-linked calvarial hyperostosis Is a True Developmental hereditary disorder Inferred relationship Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Xp22.13p22.2 duplication syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Occipital pachygyria and polymicrogyria (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Chondrodysplasia with joint dislocations gPAPP type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hereditary cryohydrocytosis with reduced stomatin Is a True Developmental hereditary disorder Inferred relationship Some
Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Extensor tendons of finger anomalies (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Richieri Costa-da Silva syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Thoracic dysplasia and hydrocephalus syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Thoracomelic dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) Is a False Developmental hereditary disorder Inferred relationship Some
Macrocephaly, intellectual disability, autism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Subaortic stenosis and short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Stickler syndrome type 3 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
RIDDLE syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia Is a True Developmental hereditary disorder Inferred relationship Some
Holzgreve syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hereditary isolated aplastic anemia Is a True Developmental hereditary disorder Inferred relationship Some
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Reunion Island Larsen-like syndrome Is a False Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability due to GRIA3 mutations Is a True Developmental hereditary disorder Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Spondylometaphyseal dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Otopalatodigital syndrome spectrum disorder Is a True Developmental hereditary disorder Inferred relationship Some
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Is a True Developmental hereditary disorder Inferred relationship Some
Antecubital pterygium syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Cobblestone lissencephaly without muscular or ocular involvement (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hyperekplexia epilepsy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Aneurysm osteoarthritis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Muenke syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Bifid nose (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Osteopetrosis Is a True Developmental hereditary disorder Inferred relationship Some
Congenital ichthyosis of skin Is a True Developmental hereditary disorder Inferred relationship Some
Albinism Is a True Developmental hereditary disorder Inferred relationship Some

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