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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
Microcephalic primordial dwarfism Toriello type Is a True Developmental hereditary disorder Inferred relationship Some
Ophthalmomandibulomelic dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive distal osteolysis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Schinzel phocomelia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Progressive deafness with stapes fixation Is a True Developmental hereditary disorder Inferred relationship Some
Tibial aplasia and ectrodactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Gnathodiaphyseal dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Ectodermal dysplasia with natal teeth Turnpenny type Is a True Developmental hereditary disorder Inferred relationship Some
Growth delay due to insulin-like growth factor I resistance Is a True Developmental hereditary disorder Inferred relationship Some
MORM syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Chondrodysplasia punctata Toriello type Is a True Developmental hereditary disorder Inferred relationship Some
Glomuvenous malformation Is a True Developmental hereditary disorder Inferred relationship Some
Spondylo-ocular syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Aplasia of lacrimal and salivary gland Is a True Developmental hereditary disorder Inferred relationship Some
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis Is a True Developmental hereditary disorder Inferred relationship Some
Postaxial polydactyly type A Is a True Developmental hereditary disorder Inferred relationship Some
Postaxial polydactyly type B Is a True Developmental hereditary disorder Inferred relationship Some
Polydactyly of triphalangeal thumb Is a True Developmental hereditary disorder Inferred relationship Some
Brachydactyly type A1 Is a True Developmental hereditary disorder Inferred relationship Some
Brachydactyly type A4 Is a True Developmental hereditary disorder Inferred relationship Some
Brachydactyly type A6 Is a True Developmental hereditary disorder Inferred relationship Some
Syndactyly type 1 Is a True Developmental hereditary disorder Inferred relationship Some
Syndactyly type 2 Is a True Developmental hereditary disorder Inferred relationship Some
Syndactyly type 3 Is a True Developmental hereditary disorder Inferred relationship Some
Lissencephaly type 1 due to doublecortin gene mutation Is a True Developmental hereditary disorder Inferred relationship Some
Smith McCort dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Acrocallosal syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive primary microcephaly Is a True Developmental hereditary disorder Inferred relationship Some
Wellesley Carman French syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Cerebellum agenesis with hydrocephaly Is a True Developmental hereditary disorder Inferred relationship Some
Gollop Wolfgang complex Is a True Developmental hereditary disorder Inferred relationship Some
Lowry Yong syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Gollop syndrome Is a True Developmental hereditary disorder Inferred relationship Some
MacDermot Winter syndrome Is a True Developmental hereditary disorder Inferred relationship Some
GMS syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Haspeslagh Fryns Muelenaere syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Holoprosencephaly and postaxial polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Schmitt Gillenwater Kelly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Saito Kuba Tsuruta syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Goldblatt Wallis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Early onset parkinsonism and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Fryns macrocephaly Is a True Developmental hereditary disorder Inferred relationship Some
Upper limb defect with eye and ear abnormalities syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Mullerian duct and limb anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcornea with corectopia and macular hypoplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcornea with glaucoma and absent frontal sinus syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Nathalie syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Oculocerebral hypopigmentation syndrome of Preus type Is a True Developmental hereditary disorder Inferred relationship Some
Boder syndrome 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 Is a True Developmental hereditary disorder Inferred relationship Some
Thong Douglas Ferrante syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Short stature with valvular heart disease and characteristic facies syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Game Friedman Paradice syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Mehes syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Shprintzen Goldberg omphalocele syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Spondylocamptodactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant spondylocostal dysostosis Is a True Developmental hereditary disorder Inferred relationship Some
Steinfeld syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Chitty Hall Baraitser syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Sellars Beighton syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Deafness craniofacial syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Zlotogora Ogur syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Tetraamelia with multiple malformation syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Urban Rogers Meyer syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant centronuclear myopathy Is a True Developmental hereditary disorder Inferred relationship Some
Female restricted epilepsy with intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
FRAXE intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Thomas syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hypoplastic tibia and postaxial polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Multicentric osteolysis nodulosis arthropathy spectrum Is a True Developmental hereditary disorder Inferred relationship Some
L1 syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Joubert syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hereditary cavernous haemangioma of brain Is a False Developmental hereditary disorder Inferred relationship Some
Deficiency of leukotriene C4 synthase Is a False Developmental hereditary disorder Inferred relationship Some
Familial digital arthropathy and brachydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Metaphyseal dysplasia Braun Tinschert type Is a True Developmental hereditary disorder Inferred relationship Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked epilepsy with learning disability and behaviour disorder syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia Irapa type Is a True Developmental hereditary disorder Inferred relationship Some
Syndromic orbital border hypoplasia Is a True Developmental hereditary disorder Inferred relationship Some
Koolen De Vries syndrome 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 Is a True Developmental hereditary disorder Inferred relationship Some
Enlarged parietal foramina Is a True Developmental hereditary disorder Inferred relationship Some
Piebaldism Is a True Developmental hereditary disorder Inferred relationship Some
Isolated right ventricular hypoplasia Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant popliteal pterygium syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Atypical Rett syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16 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 Is a True Developmental hereditary disorder Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome 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 True Developmental hereditary disorder Inferred relationship Some
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

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