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

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