363070008: Developmental hereditary disorder (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\Developmental hereditary disorder

\trouble du développement\Developmental hereditary disorder

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Developmental hereditary disorder	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Developmental hereditary disorder	est un(e) (attribut)	maladie héréditaire	true	Inferred relationship	Some
Developmental hereditary disorder	est un(e) (attribut)	trouble du développement	true	Inferred relationship	Some

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

Start Previous Page 3 of 14 Next End

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Back to Start

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
707591000077118	trouble héréditaire du développement (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
754853019	Developmental hereditary disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
84831000077112	trouble héréditaire du développement	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)