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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
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability, hypotonia, movement disorder syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Waardenburg Shah syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Oculocerebrodental syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital myopathy with reduced type 2 muscle fibers Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spastic ataxia, dysarthria due to glutaminase deficiency Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability, short stature, overweight syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital isolated onychodysplasia Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Diaphyseal medullary stenosis with bone malignancy Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Congenital vertebral, cardiac, renal anomalies syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Polyendocrine polyneuropathy syndrome Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier
Infantile multisystem neurologic, endocrine, pancreatic disease Is a True Developmental hereditary disorder Inferred relationship Existential restriction modifier

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