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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
Aplasia of fibula co-occurrent with complex brachydactyly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism of Toriello type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ophthalmomandibulomelic dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive distal osteolysis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Phocomelia Schinzel type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Progressive deafness with stapes fixation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Tibial aplasia and ectrodactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Gnathodiaphyseal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ectodermal dysplasia with natal teeth Turnpenny type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Growth delay due to insulin-like growth factor I resistance Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Chondrodysplasia punctata Toriello type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Glomuvenous malformation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloocular syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Postaxial polydactyly type A Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Postaxial polydactyly type B Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Polydactyly of triphalangeal thumb Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly type A1 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly type A4 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly type A6 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Syndactyly type 1 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Syndactyly type 2 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Syndactyly type 3 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lissencephaly type 1 due to doublecortin gene mutation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Smith McCort dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acrocallosal syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive primary microcephaly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cataract with aberrant oral frenula and growth delay syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Agenesis of cerebellum and hydrocephalus syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Bifid femur co-occurrent with monodactylous ectrodactyly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cleft palate and cleft lip with deafness and sacral lipoma syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Frontofacionasal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Prominent glabella with microcephaly and hypogenitalism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Goniodysgenesis with intellectual disability and short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short stature with craniofacial anomalies and genital hypoplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Holoprosencephaly and postaxial polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Fibulo-ulnar hypoplasia and renal anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hypospadias and intellectual disability syndrome Goldblatt type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Early onset parkinsonism and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Macrocephaly with spastic paraplegia and dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Upper limb defect with eye and ear abnormalities syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Mullerian duct and limb anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly with deafness and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcornea with corectopia and macular hypoplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcornea with glaucoma and absent frontal sinus syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Deafness with cataract and skeletal anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Oculocerebral hypopigmentation syndrome of Preus type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Odontoma dysphagia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Alopecia and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short stature with valvular heart disease and characteristic facies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Growth delay with hydrocephalus and lung hypoplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Shprintzen Goldberg omphalocele syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondylocamptodactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant spondylocostal dysostosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Steinfeld syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Deafness with epiphyseal dysplasia and short stature syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Deafness with malformation of ear and facial palsy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Deafness craniofacial syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cleft lip and cleft palate with ectodermal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Tetraamelia with multiple malformation syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability and short stature with hand contracture and genital anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant centronuclear myopathy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Female restricted epilepsy with intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
FRAXE intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Potter sequence cleft lip and palate cardiopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Multicentric osteolysis nodulosis arthropathy spectrum Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Joubert syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hereditary cavernous hemangioma of brain Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Deficiency of leukotriene C4 synthase Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial digital arthropathy and brachydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Metaphyseal dysplasia Braun Tinschert type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microphthalmia with ankyloblepharon and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked epilepsy with learning disability and behavior disorder syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia Irapa type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Syndromic hypoplasia of orbital border Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Koolen De Vries syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lissencephaly syndrome Norman Roberts type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Enlarged parietal foramina Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Piebaldism Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Isolated right ventricular hypoplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant popliteal pterygium syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Atypical Rett syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Multiple congenital exostosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hereditary acantholytic dermatosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Leydig cell agenesis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Exostosis, anetoderma, brachydactyly type E syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acrocephalopolysyndactyly type IV Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Long thumb brachydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier

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