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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
Congenital pontocerebellar hypoplasia type 6 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 5 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 4 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 3 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 1 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital pontocerebellar hypoplasia type 8 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Mammary digital nail syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 9 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Isolated cryptophthalmos Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Primary immunodeficiency syndrome due to p14 deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lissencephaly type 3 familial fetal akinesia sequence syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lissencephaly type 3 metacarpal bone dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lissencephaly due to tubulin alpha 1A mutation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia Reardon type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability with ataxia and apraxia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Fried syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cataract glaucoma syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Zellweger-like syndrome without peroxisomal anomaly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Seemanova type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Syndromic X-linked intellectual disability type 11 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Shrimpton type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Siderius type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Stevenson type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Stocco Dos Santos type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Stoll type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Turner type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Van Esch type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Wilson type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Schimke type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Pai type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Miles Carpenter type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Cilliers type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Cantagrel type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Armfield type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Abidi type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
WT limb blood syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pallister W syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
DK phocomelia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hip dysplasia with enchondromata and ecchondroma syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Uveal coloboma with cleft lip and palate and intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Shprintzen Goldberg craniosynostosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Branchioskeletogenital syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Carpenter Waziri syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataract with ataxia and deafness syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability with cerebellar hypoplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Syndactyly type 4 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Syndactyly type 5 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Syndromic X-linked intellectual disability type 7 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia aggrecan type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia matrilin-3 type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia Missouri type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepimetaphyseal dysplasia Shohat type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia Kimberley type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia Maroteaux type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Smith Fineman Myers syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 34 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pterygium colli with intellectual disability and digital anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pyknoachondrogenesis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Primary ciliary dyskinesia and retinitis pigmentosa syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pelvis shoulder dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pelviscapular dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Stapes ankylosis with broad thumb and toe syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Steatocystoma multiplex with natal tooth syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephalus with brachydactyly and kyphoscoliosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephalus with cardiac defect and lung malsegmentation syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephalus cardiomyopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephalus cleft palate syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Mesomelic dysplasia Kantaputra type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lethal faciocardiomelic dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lethal hemolytic anemia and genital anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lethal recessive chondrodysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lethal omphalocele with cleft palate syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lethal Larsen-like syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ectodermal dysplasia with acanthosis nigricans syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cleft palate with short stature and vertebral anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Cleidorhizomelic syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant palmoplantar keratoderma and congenital alopecia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
17q11.2 microduplication syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Absence of fingerprints with congenital milia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Absent thumb with short stature and immunodeficiency syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Gingival fibromatosis with facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Chromosome Xp11.3 microdeletion syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability with seizure and psoriasis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier

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