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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
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Is a True Developmental hereditary disorder Inferred relationship Some
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability, hypotonia, movement disorder syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Is a True Developmental hereditary disorder Inferred relationship Some
Waardenburg Shah syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Oculocerebrodental syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital myopathy with reduced type 2 muscle fibres Is a True Developmental hereditary disorder Inferred relationship Some
Spastic ataxia, dysarthria due to glutaminase deficiency Is a True Developmental hereditary disorder Inferred relationship Some
X-linked intellectual disability, short stature, overweight syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital isolated onychodysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Diaphyseal medullary stenosis with bone malignancy Is a True Developmental hereditary disorder Inferred relationship Some
PUM1-associated developmental disability, ataxia, seizure syndrome Is a True Developmental hereditary disorder Inferred relationship Some
WARS2-related combined oxidative phosphorylation defect Is a True Developmental hereditary disorder Inferred relationship Some
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital vertebral, cardiac, renal anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Developmental hereditary disorder Inferred relationship Some
EVEN-plus syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Polyendocrine polyneuropathy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Infantile multisystem neurologic, endocrine, pancreatic disease Is a True Developmental hereditary disorder Inferred relationship Some
Sonoda syndrome Is a True Developmental hereditary disorder Inferred relationship Some

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