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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
Spastic paraplegia, glaucoma, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Say Field Coldwell syndrome 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
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Carney complex Is a True Developmental hereditary disorder Inferred relationship Some
Megalocornea with intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcephalus, lymphoedema, chorioretinopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
XY type gonadal dysgenesis with associated anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Summitt syndrome Is a True Developmental hereditary disorder Inferred relationship Some
46,XX disorder of sex development with skeletal anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Some
3-phosphoglycerate dehydrogenase deficiency infantile form Is a True Developmental hereditary disorder Inferred relationship Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Ectodermal dysplasia trichoodontoonychial type Is a True Developmental hereditary disorder Inferred relationship Some
Isolated congenital megalocornea Is a True Developmental hereditary disorder Inferred relationship Some
Renal coloboma syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Nance-Horan syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked periventricular heterotopia Is a True Developmental hereditary disorder Inferred relationship Some
Tetra-amelia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Desmosterolosis Is a True Developmental hereditary disorder Inferred relationship Some
Bowen-Conradi syndrome 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 Is a True Developmental hereditary disorder Inferred relationship Some
Partial androgen insensitivity syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Temtamy preaxial brachydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant aplasia and myelodysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Fibroblast growth factor receptor 2-related bent bone dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Blepharophimosis, intellectual disability syndrome, Verloes type Is a True Developmental hereditary disorder Inferred relationship Some
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome 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 ITCH deficiency Is a True Developmental hereditary disorder Inferred relationship Some
Atypical hypotonia cystinuria syndrome 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 Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant prognathism of mandible 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 Is a True Developmental hereditary disorder Inferred relationship Some
Congenital neutropenia, myelofibrosis, nephromegaly syndrome 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 Is a True Developmental hereditary disorder Inferred relationship Some
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency 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 Is a True Developmental hereditary disorder Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome 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 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 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 Is a True Developmental hereditary disorder Inferred relationship Some
Chondrodysplasia with joint dislocations gPAPP type Is a True Developmental hereditary disorder Inferred relationship Some
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome 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 Is a True Developmental hereditary disorder Inferred relationship Some
Familial adrenal hypoplasia with absent pituitary luteinising hormone Is a True Developmental hereditary disorder Inferred relationship Some
Extensor tendons of finger anomalies 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 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 Is a True Developmental hereditary disorder Inferred relationship Some
Atypical dentin dysplasia due to SMOC2 deficiency Is a False Developmental hereditary disorder Inferred relationship Some
Macrocephaly, intellectual disability, autism syndrome 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 CYP11A1 deficiency 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 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 Is a True Developmental hereditary disorder Inferred relationship Some
Megalocornea, spherophakia, secondary glaucoma syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hereditary isolated aplastic anaemia Is a True Developmental hereditary disorder Inferred relationship Some
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome 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 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 Is a True Developmental hereditary disorder Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hyperekplexia epilepsy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Aneurysm osteoarthritis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Developmental delay, facial dysmorphism syndrome due to MED13L deficiency Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
ANK3-related intellectual disability, sleep disturbance syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Muenke syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Bifid nose 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
Atelosteogenesis Is a True Developmental hereditary disorder Inferred relationship Some

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