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
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a True Developmental hereditary disorder Inferred relationship Some
Dentin dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Hereditary skin peeling syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Xeroderma pigmentosum Is a True Developmental hereditary disorder Inferred relationship Some
Dysmorphic sialidosis, congenital form Is a True Developmental hereditary disorder Inferred relationship Some
Dentinogenesis imperfecta Is a True Developmental hereditary disorder Inferred relationship Some
Curry-Hall syndrome Is a True Developmental hereditary disorder Inferred relationship Some
7p22.1 microduplication syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital hereditary endothelial dystrophy Is a True Developmental hereditary disorder Inferred relationship Some
Xp22.3 microdeletion syndrome Is a False Developmental hereditary disorder Inferred relationship Some
Beta-D-mannosidosis Is a True Developmental hereditary disorder Inferred relationship Some
Choroideraemia with deafness and obesity syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Chromosome Xq27.3q28 duplication syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Xq12-q13.3 duplication syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability hypotonic face syndrome Is a True Developmental hereditary disorder Inferred relationship Some
3q29 microdeletion syndrome Is a True Developmental hereditary disorder Inferred relationship Some
2p21 microdeletion syndrome without cystinuria Is a True Developmental hereditary disorder Inferred relationship Some
2p21 microdeletion syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Developmental absence of tooth Is a True Developmental hereditary disorder Inferred relationship Some
Palmoplantar hyperkeratosis sclerodactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Hunter-Thompson dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Symphalangism Cushing type Is a True Developmental hereditary disorder Inferred relationship Some
XK aprosencephaly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Rieger syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Isomerism of right atrial appendage Is a True Developmental hereditary disorder Inferred relationship Some
Diaphyseal dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Diaphyseal dysplasia with anaemia Is a True Developmental hereditary disorder Inferred relationship Some
Chondrodysplasia punctata, X-linked dominant type Is a True Developmental hereditary disorder Inferred relationship Some
Chondrodysplasia punctata, X-linked recessive type Is a True Developmental hereditary disorder Inferred relationship Some
N syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
MARCH syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Tall stature, intellectual disability, renal anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Deafness-dystonia-optic neuronopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Ocular anomalies, axonal neuropathy, developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
RERE-related neurodevelopmental syndrome Is a True Developmental hereditary disorder Inferred relationship Some
TELO2-related intellectual disability, neurodevelopmental disorder Is a True Developmental hereditary disorder Inferred relationship Some
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Some
TBCK-related intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
SIX2-related frontonasal dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome Is a False Developmental hereditary disorder Inferred relationship Some
CLCN4-related X-linked intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Is a True Developmental hereditary disorder Inferred relationship Some
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked agammaglobulinaemia with growth hormone deficiency Is a True Developmental hereditary disorder Inferred relationship Some
PMP22-RAI1 contiguous gene duplication syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Christianson syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked neurodegenerative syndrome Hamel type Is a True Developmental hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 23 Is a True Developmental hereditary disorder Inferred relationship Some
Severe X-linked myotubular myopathy Is a True Developmental hereditary disorder Inferred relationship Some
Atrichia congenita Is a True Developmental hereditary disorder Inferred relationship Some
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Lethal tight skin contracture syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital cerebellar ataxia due to RNU12 mutation Is a True Developmental hereditary disorder Inferred relationship Some
Mohr syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Orofacial-digital syndrome III Is a True Developmental hereditary disorder Inferred relationship Some
Orofacial-digital syndrome IV Is a True Developmental hereditary disorder Inferred relationship Some
Kallman syndrome with heart disease Is a True Developmental hereditary disorder Inferred relationship Some
Colobomatous macrophthalmia with microcornea syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Familial patent arterial duct Is a True Developmental hereditary disorder Inferred relationship Some
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
FLNA-related X-linked myxomatous valvular dysplasia Is a True Developmental hereditary disorder Inferred relationship Some
GNB5-related intellectual disability, cardiac arrhythmia syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Growth delay, intellectual disability, hepatopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Infantile inflammatory bowel disease with neurological involvement Is a True Developmental hereditary disorder Inferred relationship Some
Gabriele-de Vries syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Is a True Developmental hereditary disorder Inferred relationship Some
Non-specific syndromic intellectual disability Is a True Developmental hereditary disorder Inferred relationship Some
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency Is a True Developmental hereditary disorder Inferred relationship Some
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Stromme syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Witteveen Kolk syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Sugarman brachydactyly Is a True Developmental hereditary disorder Inferred relationship Some
Microcephalic cortical malformations, short stature due to RTTN deficiency Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, epilepsy, extrapyramidal syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Is a True Developmental hereditary disorder Inferred relationship Some
VPS11-related autosomal recessive hypomyelinating leucodystrophy Is a True Developmental hereditary disorder Inferred relationship Some
Seizures, scoliosis, macrocephaly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Spastic paraplegia, severe developmental delay, epilepsy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, spasticity, ectrodactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Basel Vanagaite Smirin Yosef syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Melorheostosis with osteopoikilosis Is a True Developmental hereditary disorder Inferred relationship Some

Start Previous Page 13 of 15 Next End

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start