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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
X-linked intellectual disability with seizure and psoriasis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Cabezas type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability with plagiocephaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked mandibulofacial dysostosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked myopathy with excessive autophagy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Vici syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability, macrocephaly, macroorchidism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability with acromegaly and hyperactivity syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Wilson Turner syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked dominant chondrodysplasia Chassaing Lacombe type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Renal dysplasia with limb defect syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital hypoplasia of ulna and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ulna fibula ray defect and brachydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Timothy syndrome type 2 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Tel Hashomer camptodactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Trigonocephaly with broad thumb syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Triphalangeal thumb and polysyndactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Triphalangeal thumb with brachyectrodactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Haim Munk syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microphthalmia with brain atrophy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cystic fibrosis with gastritis and megaloblastic anemia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acrofrontofacionasal dysostosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acrootoocular syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acropectoral syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acrorenal mandibular syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acrorenoocular syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acrocapitofemoral dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acrocephalopolydactyly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acrocraniofacial dysostosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acrofacial dysostosis Catania type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acrofacial dysostosis Kennedy Teebi type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acrofacial dysostosis Palagonia type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acrofacial dysostosis Rodriguez type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acromegaloid facial appearance syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acropectorovertebral dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acrorenal syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acro-dermato-ungual-lacrimal-tooth syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Aniridia and absent patella syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Aniridia and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ankylosing vertebral hyperostosis with tylosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Anonychia with microcephaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Anophthalmia plus syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Aphalangy and syndactyly with microcephaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Aplasia cutis with myopia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Aplasia cutis congenita with intestinal lymphangiectasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Arterial dissection and lentiginosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ataxia with deafness and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Athabaskan brainstem dysgenesis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Bosley Salih Alorainy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly and arterial hypertension syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly type A2 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly type A5 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly with syndactyly Zhao type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Brachytelephalangy, facial dysmorphism, Kallmann syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Braddock syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Brain calcification Rajab type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Doughnut lesion of calvaria and bone fragility syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Campomelia Cumming type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Camptodactyly and tall stature with scoliosis and hearing loss syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Camptodactyly syndrome Guadalajara type 1 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Camptodactyly syndrome Guadalajara type 2 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cardiac anomaly and heterotaxy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cardiocranial syndrome Pfeiffer type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cardiomyopathy and renal anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cardiospondylocarpofacial syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Syndactyly type 7 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cerebro-facio-thoracic dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cooks syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Aural atresia with multiple congenital anomalies and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Coxopodopatellar syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cranioosteoarthropathy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Craniofacial conodysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Craniofacial dyssynostosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Craniofacial ulnar renal syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Craniosynostosis, anal anomaly, porokeratosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Craniosynostosis and intracranial calcification syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Craniosynostosis Boston type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Craniosynostosis Philadelphia type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cystic leukoencephalopathy without megalencephaly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Czech dysplasia metatarsal type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Chondrodysplasia with disorder of sex development syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cervical hypertrichosis and peripheral neuropathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cerebrooculonasal syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Aplasia of fibula and ectrodactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Filippi syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Fine Lubinsky syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Deafness with skeletal dysplasia and lip granuloma syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier

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