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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
Amish lethal microcephaly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Dentin dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Hereditary skin peeling syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Xeroderma pigmentosum Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Dysmorphic sialidosis, congenital form Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Dentinogenesis imperfecta Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Curry-Hall syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
7p22.1 microduplication syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital hereditary endothelial dystrophy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Chromosome Xp22.3 microdeletion syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Beta-D-mannosidosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Choroideremia with deafness and obesity syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Chromosome Xq27.3q28 duplication syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Xq12-q13.3 duplication syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability hypotonic face syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
3q29 microdeletion syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
2p21 microdeletion syndrome without cystinuria Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
2p21 microdeletion syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Developmental absence of tooth Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Palmoplantar hyperkeratosis sclerodactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Acromesomelic dysplasia Hunter-Thompson type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Proximal interphalangeal joint symphalangism Cushing type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
XK aprosencephaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Rieger syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Isomerism of right atrial appendage Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Diaphyseal dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ghosal hematodiaphyseal dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Chondrodysplasia punctata, X-linked dominant type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Chondrodysplasia punctata, X-linked recessive type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
N syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Tall stature, intellectual disability, renal anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Deafness-dystonia-optic neuronopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Ocular anomalies, axonal neuropathy, developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
TBC1 domain containing kinase-related intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
SIX homeobox 2-related frontonasal dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Split-foot malformation, mesoaxial polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Monocarboxylate transporter 8 deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked agammaglobulinemia with growth hormone deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual developmental disorder Christianson type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked neurodegenerative syndrome Hamel type Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Combined oxidative phosphorylation defect type 23 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Severe X-linked myotubular myopathy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Lethal tight skin contracture syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Mohr syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Orofacial-digital syndrome III Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Orofacial-digital syndrome IV Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Kallman syndrome with heart disease Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Colobomatous macrophthalmia with microcornea syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial patent arterial duct Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Filamin A-related X-linked myxomatous valvular dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Growth delay, intellectual disability, hepatopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Infantile inflammatory bowel disease with neurological involvement Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Gabriele-de Vries syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Non-specific syndromic intellectual disability Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Stromme syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Witteveen Kolk syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Sugarman brachydactyly Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephalic cortical malformations, short stature due to rotatin deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, epilepsy, extrapyramidal syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Seizures, scoliosis, macrocephaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spastic paraplegia, severe developmental delay, epilepsy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, spasticity, ectrodactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Basel Vanagaite Smirin Yosef syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Melorheostosis with osteopoikilosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier

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