FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

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
Pontocerebellar hypoplasia type 5 Is a True Developmental hereditary disorder Inferred relationship Some
Pontocerebellar hypoplasia type 4 Is a True Developmental hereditary disorder Inferred relationship Some
Pontocerebellar hypoplasia type 3 Is a True Developmental hereditary disorder Inferred relationship Some
Pontocerebellar hypoplasia type 1 Is a True Developmental hereditary disorder Inferred relationship Some
Pontocerebellar hypoplasia type 8 Is a True Developmental hereditary disorder Inferred relationship Some
Mammary digital nail syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Orofaciodigital syndrome type 9 Is a True Developmental hereditary disorder Inferred relationship Some
Isolated cryptophthalmos Is a True Developmental hereditary disorder Inferred relationship Some
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Primary immunodeficiency syndrome due to p14 deficiency Is a True Developmental hereditary disorder Inferred relationship Some
Lissencephaly type 3 familial fetal akinesia sequence syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Lissencephaly type 3 metacarpal bone dysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation Is a True Developmental hereditary disorder Inferred relationship Some
Syndromic microphthalmia type 5 Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia MacDermot type Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Reardon type Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Cantu type Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Nishimura type Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Fried syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Cataract glaucoma syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Zellweger-like syndrome without peroxisomal anomaly Is a True Developmental hereditary disorder Inferred relationship Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Seemanova type Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Shashi type 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 Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Stevenson type Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Stocco Dos Santos type Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Stoll type Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Turner type Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Van Esch type Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Wilson type Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Schimke type Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Pai type Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Miles-Carpenter type Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Cilliers type Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Cantagrel type Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Armfield type Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Abidi type Is a True Developmental hereditary disorder Inferred relationship Some
WT limb blood syndrome Is a True Developmental hereditary disorder Inferred relationship Some
W syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Von Voss-Cherstvoy syndrome 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 Is a True Developmental hereditary disorder Inferred relationship Some
VACTERL syndrome with hydrocephalus Is a True Developmental hereditary disorder Inferred relationship Some
Shprintzen-Goldberg syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Branchioskeletogenital 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 Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability with cerebellar hypoplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Syndactyly type 4 Is a True Developmental hereditary disorder Inferred relationship Some
Syndactyly type 5 Is a True Developmental hereditary disorder Inferred relationship Some
Syndromic X-linked intellectual disability type 7 Is a True Developmental hereditary disorder Inferred relationship Some
Syndromic X-linked intellectual disability due to JARID1C mutation Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia aggrecan type Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia matrilin-3 type Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia Missouri type Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia PAPSS2 type Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia Shohat type Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Kimberley type Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Maroteaux type 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 Is a True Developmental hereditary disorder Inferred relationship Some
Pterygium colli with intellectual disability and digital anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Pyknoachondrogenesis Is a True Developmental hereditary disorder Inferred relationship Some
Primary ciliary dyskinesia and retinitis pigmentosa syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Pelvis shoulder dysplasia 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 Is a True Developmental hereditary disorder Inferred relationship Some
Steatocystoma multiplex with natal tooth syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcephaly with brachydactyly and kyphoscoliosis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcephaly with cardiac defect and lung malsegmentation syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcephaly cardiomyopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcephaly cleft palate syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Mesomelic dysplasia Kantaputra type Is a True Developmental hereditary disorder Inferred relationship Some
Lethal faciocardiomelic dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Lethal haemolytic anaemia and genital anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Lethal recessive chondrodysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Lethal omphalocele with cleft palate syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Lethal Larsen-like syndrome 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 Is a True Developmental hereditary disorder Inferred relationship Some
Cleft palate with short stature and vertebral anomaly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Cleidorhizomelic syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia Is a True Developmental hereditary disorder Inferred relationship Some
17q11.2 microduplication syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Absence of fingerprints with congenital milia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Absent thumb with short stature and immunodeficiency syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Gingival fibromatosis with facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Chromosome Xp11.3 microdeletion syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability with seizure and psoriasis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability Cabezas type Is a True Developmental hereditary disorder Inferred relationship Some

Start Previous Page 3 of 15 Next End

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start