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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
X-linked intellectual disability with seizure and psoriasis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Cabezas type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
X-linked mandibulofacial dysostosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
X-linked myopathy with excessive autophagy (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Vici syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Wilson Turner syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Renal dysplasia with limb defect syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Congenital hypoplasia of ulna and intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Timothy syndrome type 2 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Tel Hashomer camptodactyly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Temtamy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Trigonocephaly with broad thumb syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Triphalangeal thumb and polysyndactyly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Haim Munk syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Microphthalmia with brain atrophy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Acrofrontofacionasal dysostosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Acrootoocular syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Acropectoral syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Acrorenal mandibular syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Acrorenoocular syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Acrocapitofemoral dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Acrocephalopolydactyly (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Acrocraniofacial dysostosis (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Acrofacial dysostosis Catania type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Acrofacial dysostosis Palagonia type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Acrofacial dysostosis Rodriguez type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Acromegaloid facial appearance syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Acropectorovertebral dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Acrorenal syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Aniridia and absent patella syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Aniridia and intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Ankylosing vertebral hyperostosis with tylosis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Anophthalmia plus syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Aphalangy and syndactyly with microcephaly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Aplasia cutis with myopia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Arterial dissection and lentiginosis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Ataxia with deafness and intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Athabaskan brainstem dysgenesis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Bosley Salih Alorainy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Brachydactyly and arterial hypertension syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Brachydactyly type A2 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Brachydactyly type A5 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Brachydactyly with syndactyly Zhao type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Braddock syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Brain calcification Rajab type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Doughnut lesion of calvaria and bone fragility syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Campomelia Cumming type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Camptodactyly syndrome Guadalajara type 1 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Cardiac anomaly and heterotaxy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Cardiocranial syndrome Pfeiffer type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Cardiomyopathy and renal anomaly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Cenani Lenz syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Cerebro-facio-thoracic dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Cooks syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Coxopodopatellar syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Cranioosteoarthropathy (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Craniofacial conodysplasia syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Craniofacial dyssynostosis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Craniofacial ulnar renal syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Craniosynostosis, anal anomaly, porokeratosis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Craniosynostosis Boston type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Cystic leukoencephalopathy without megalencephaly (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Czech dysplasia metatarsal type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Chondrodysplasia with disorder of sex development syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Cervical hypertrichosis and peripheral neuropathy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Cerebrooculonasal syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Filippi syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Fine Lubinsky syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some

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