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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
482205012 Developmental hereditary disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
84831000077112 trouble héréditaire du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
84831000077112 trouble héréditaire du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 Existential restriction modifier (core metadata concept)
Developmental hereditary disorder Is a Developmental disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Developmental hereditary disorder Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Amish lethal microcephaly (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dentin dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary skin peeling syndrome (disorder) Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Xeroderma pigmentosum (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dysmorphic sialidosis, congenital form Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Curry-Hall syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
7p22.1 microduplication syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hereditary endothelial dystrophy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome Xp22.3 microdeletion syndrome Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Beta-D-mannosidosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Choroideremia with deafness and obesity syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome Xq27.3q28 duplication syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Xq12-q13.3 duplication syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability hypotonic face syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
3q29 microdeletion syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
2p21 microdeletion syndrome without cystinuria (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
absence de développement d'une dent Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Acromesomelic dysplasia Hunter-Thompson type (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Proximal interphalangeal joint symphalangism Cushing type (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
XK aprosencephaly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Rieger syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare heterotaxia characterised by complex congenital heart malformations and abnormal lateralisation of other thoracic and abdominal organs due to embryonic disruption of the left-right axis development. Cardiac defects include dextrocardia or mesocardia, common atrioventricular valve associated with complete atrioventricular septal defect or common atrium, transposition or malposition of the great arteries, and total anomalous pulmonary venous drainage, among others. Cardiac arrhythmias are frequently observed. Typical abnormalities of other organs are bilateral trilobed lungs, midline liver, and asplenia. Patients present in the newborn period with severe cardiac failure and cyanosis. Prognosis is poor. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia punctata, X-linked dominant type (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia punctata, X-linked recessive type (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
N syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
MARCH syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Tall stature, intellectual disability, renal anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Deafness-dystonia-optic neuronopathy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare, severe early-onset neurodegenerative encephalopathy characterized mainly by developmental delay (DD) / developmental regression (DR), epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
RERE-related neurodevelopmental syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
TBCK-related intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
SIX2-related frontonasal dysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Split-foot malformation, mesoaxial polydactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic retinal disorder characterised by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder) Is a False Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
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 (core metadata concept)
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked agammaglobulinemia with growth hormone deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual developmental disorder Christianson type (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
An X-linked syndromic intellectual disability characterised by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 23 Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Severe X-linked myotubular myopathy (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lethal tight skin contracture syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mohr syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Orofacial-digital syndrome III Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Orofacial-digital syndrome IV Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Kallman syndrome with heart disease Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous macrophthalmia with microcornea syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Filamin A-related X-linked myxomatous valvular dysplasia (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
GNB5-related intellectual disability, cardiac arrhythmia syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Growth delay, intellectual disability, hepatopathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhoea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leucoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Gabriele-de Vries syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Non-specific syndromic intellectual disability Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay, intellectual disability, early-onset seizures, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, large ears, thin upper lip, and high arched palate). Other reported features are microcephaly, hypotonia, growth retardation, congenital heart defects, and malformations of the fingers and toes, as well as additional neurologic manifestations (such as ataxia or spastic quadriplegia). Brain imaging may show hypoplastic corpus callosum, white matter abnormalities, or cortical atrophy. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Stromme syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Witteveen Kolk syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Sugarman brachydactyly (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, epilepsy, extrapyramidal syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
VPS11-related autosomal recessive hypomyelinating leucodystrophy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Seizures, scoliosis, macrocephaly syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterised by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behaviour, and café-au-lait spots, among others. Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, spasticity, ectrodactyly syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Basel Vanagaite Smirin Yosef syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Melorheostosis with osteopoikilosis Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)

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