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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
X-linked intellectual disability Cabezas type Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked mandibulofacial dysostosis Is a True Developmental hereditary disorder Inferred relationship Some
X-linked myopathy with excessive autophagy Is a True Developmental hereditary disorder Inferred relationship Some
Vici syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability, macrocephaly, macroorchidism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability with acromegaly and hyperactivity syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Wilson Turner syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked dominant chondrodysplasia Chassaing Lacombe type Is a True Developmental hereditary disorder Inferred relationship Some
Ulbright Hodes syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital hypoplasia of ulna and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Timothy syndrome type 2 Is a True Developmental hereditary disorder Inferred relationship Some
Tricho-retino-dento-digital syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Tel Hashomer camptodactyly syndrome 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 Is a True Developmental hereditary disorder Inferred relationship Some
Triphalangeal thumb and polysyndactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Triphalangeal thumb with brachyectrodactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Haim Munk syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microphthalmia with brain atrophy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Alymphoid cystic thymic dysgenesis Is a True Developmental hereditary disorder Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anaemia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Acrofrontofacionasal dysostosis Is a True Developmental hereditary disorder Inferred relationship Some
Acro-oto-ocular syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Acropectoral syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Acrorenal mandibular syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Acrorenoocular syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Acrocapitofemoral dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Acrocephalopolydactyly Is a True Developmental hereditary disorder Inferred relationship Some
Acrocraniofacial dysostosis Is a True Developmental hereditary disorder Inferred relationship Some
Acrofacial dysostosis Catania type Is a True Developmental hereditary disorder Inferred relationship Some
Acrofacial dysostosis Kennedy Teebi type Is a True Developmental hereditary disorder Inferred relationship Some
Acrofacial dysostosis Palagonia type Is a True Developmental hereditary disorder Inferred relationship Some
Acrofacial dysostosis Rodriguez type Is a True Developmental hereditary disorder Inferred relationship Some
Acromegaloid facial appearance syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Acropectorovertebral dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Acrorenal syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Aniridia and absent patella syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Aniridia and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Ankylosing vertebral hyperostosis with tylosis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Anonychia with microcephaly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Anophthalmia plus syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Aphalangy and syndactyly with microcephaly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Aplasia cutis with myopia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Arterial dissection and lentiginosis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Ataxia with deafness and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Athabaskan brainstem dysgenesis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Bosley Salih Alorainy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Brachydactyly and arterial hypertension syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Brachydactyly type A2 Is a True Developmental hereditary disorder Inferred relationship Some
Brachydactyly type A5 Is a True Developmental hereditary disorder Inferred relationship Some
Brachydactyly with syndactyly Zhao type Is a True Developmental hereditary disorder Inferred relationship Some
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Brachytelephalangy, facial dysmorphism, Kallmann syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Braddock syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Brain calcification Rajab type Is a True Developmental hereditary disorder Inferred relationship Some
Calvarial doughnut lesion with bone fragility syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Campomelia Cumming type Is a True Developmental hereditary disorder Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Camptodactyly syndrome Guadalajara type 1 Is a True Developmental hereditary disorder Inferred relationship Some
Camptodactyly syndrome Guadalajara type 2 Is a True Developmental hereditary disorder Inferred relationship Some
Cardiac anomaly and heterotaxy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Cardiocranial syndrome Pfeiffer type Is a True Developmental hereditary disorder Inferred relationship Some
Cardiomyopathy and renal anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Cardiospondylocarpofacial syndrome 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 Is a True Developmental hereditary disorder Inferred relationship Some
Cerebro-facio-thoracic dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
CHIME syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Cooks syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Cooper Jabs syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Coxopodopatellar syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Cranio-osteoarthropathy Is a True Developmental hereditary disorder Inferred relationship Some
Craniofacial conodysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Craniofacial dyssynostosis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
3MC syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Craniosynostosis, anal anomaly, porokeratosis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Craniosynostosis Boston type Is a True Developmental hereditary disorder Inferred relationship Some
Craniosynostosis Philadelphia type Is a True Developmental hereditary disorder Inferred relationship Some
Cystic leucoencephalopathy without megalencephaly Is a True Developmental hereditary disorder Inferred relationship Some
Czech dysplasia metatarsal type Is a True Developmental hereditary disorder Inferred relationship Some
Chondrodysplasia with disorder of sex development syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Cervical hypertrichosis and peripheral neuropathy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Cernunnos-XLF deficiency Is a True Developmental hereditary disorder Inferred relationship Some
Cerebrooculonasal syndrome Is a True Developmental hereditary disorder Inferred relationship Some
EEM syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Fibular aplasia and ectrodactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Filippi syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Fine Lubinsky syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Fountain syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Frank-Ter Haar syndrome Is a True Developmental hereditary disorder Inferred relationship Some

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