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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
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism of Toriello type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Ophthalmomandibulomelic dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive distal osteolysis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Phocomelia Schinzel type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Progressive deafness with stapes fixation (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Tibial aplasia and ectrodactyly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Gnathodiaphyseal dysplasia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Ectodermal dysplasia with natal teeth Turnpenny type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Growth delay due to insulin-like growth factor I resistance (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Chondrodysplasia punctata Toriello type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Glomuvenous malformation (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloocular syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Postaxial polydactyly type A (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Postaxial polydactyly type B (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Polydactyly of triphalangeal thumb (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Brachydactyly type A1 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Brachydactyly type A4 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Brachydactyly type A6 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Syndactyly type 1 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Syndactyly type 2 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Syndactyly type 3 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Lissencephaly type 1 due to doublecortin gene mutation (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Smith McCort dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Acrocallosal syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive primary microcephaly (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Cataract with aberrant oral frenula and growth delay syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Cerebellum agenesis with hydrocephaly Is a True Developmental hereditary disorder Inferred relationship Some
Bifid femur co-occurrent with monodactylous ectrodactyly (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Lowry Yong syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Frontofacionasal dysplasia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Goniodysgenesis with intellectual disability and short stature syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Holoprosencephaly and postaxial polydactyly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Schmitt Gillenwater Kelly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Early onset parkinsonism and intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Upper limb defect with eye and ear abnormalities syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Mullerian duct and limb anomalies syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Microcornea with corectopia and macular hypoplasia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Deafness with cataract and skeletal anomaly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Oculocerebral hypopigmentation syndrome of Preus type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Odontoma dysphagia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Heide syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Alopecia and intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Short stature with valvular heart disease and characteristic facies syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Spondylocamptodactyly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant spondylocostal dysostosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Steinfeld syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Deafness with malformation of ear and facial palsy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Deafness craniofacial syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Tetraamelia with multiple malformation syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant centronuclear myopathy (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Female restricted epilepsy with intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
FRAXE intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Multicentric osteolysis nodulosis arthropathy spectrum (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
L1 syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Joubert syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hereditary cavernous hemangioma of brain (disorder) Is a False Developmental hereditary disorder Inferred relationship Some
Deficiency of leukotriene C4 synthase (disorder) Is a False Developmental hereditary disorder Inferred relationship Some
Familial digital arthropathy and brachydactyly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
X-linked epilepsy with learning disability and behavior disorder syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia Irapa type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Syndromic hypoplasia of orbital border (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Koolen De Vries syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Lissencephaly syndrome Norman Roberts type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Enlarged parietal foramina (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Piebaldism (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Isolated right ventricular hypoplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant popliteal pterygium syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Atypical Rett syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Multiple congenital exostosis Is a True Developmental hereditary disorder Inferred relationship Some
Hereditary acantholytic dermatosis Is a True Developmental hereditary disorder Inferred relationship Some
Leydig cell agenesis Is a True Developmental hereditary disorder Inferred relationship Some
Exostosis, anetoderma, brachydactyly type E syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Acrocephalopolysyndactyly type IV Is a False Developmental hereditary disorder Inferred relationship Some
Long thumb brachydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some

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