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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
84831000077112 trouble héréditaire du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2068 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 Some
Developmental hereditary disorder Is a Developmental disorder true Inferred relationship Some
Developmental hereditary disorder Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) 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 (disorder) 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 fibers Is a True Developmental hereditary disorder Inferred relationship Some
Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) 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 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder) 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 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior 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 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Polyendocrine polyneuropathy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Leri-Weill dyschondrosteosis Is a True Developmental hereditary disorder Inferred relationship Some
Nievergelt's syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Craniosynostosis, microretrognathia, severe intellectual disability syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital insensitivity to pain, anosmia, neuropathic arthropathy Is a True Developmental hereditary disorder Inferred relationship Some
Congenital cataract microcornea with corneal opacity Is a True Developmental hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 39 Is a True Developmental hereditary disorder Inferred relationship Some
Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Multiple mitochondrial dysfunctions syndrome type 6 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some

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