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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

2097 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
Infantile epileptic dyskinetic encephalopathy (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Neonatal epileptic encephalopathy due to glutaminase deficiency 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
Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Combined oxidative phosphorylation defect type 27 Is a True Developmental hereditary disorder Inferred relationship Some
Multiple mitochondrial dysfunctions syndrome type 2 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Triopia Is a True Developmental hereditary disorder Inferred relationship Some
Mannosidosis Is a True Developmental hereditary disorder Inferred relationship Some
I-cell disease Is a True Developmental hereditary disorder Inferred relationship Some
Combined deficiency of sialidase AND beta galactosidase Is a True Developmental hereditary disorder Inferred relationship Some
GM1 gangliosidosis Is a True Developmental hereditary disorder Inferred relationship Some
Sialic storage disease Is a True Developmental hereditary disorder Inferred relationship Some
Mucopolysaccharidosis-like plus disease Is a True Developmental hereditary disorder Inferred relationship Some
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Familial articular hypermobility syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6B type (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Folinic acid responsive seizure syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Androgen resistance syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Xp21 deletion syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Hereditary anetoderma (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Rett syndrome Is a True Developmental hereditary disorder Inferred relationship Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Clark Baraitser syndrome (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
KLHL7-related Bohring Opitz-like syndrome Is a True Developmental hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 11 (disorder) Is a True Developmental hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 13 Is a True Developmental hereditary disorder Inferred relationship Some
Congenital pontocerebellar hypoplasia type 14 Is a True Developmental hereditary disorder Inferred relationship Some
Spondyloenchondrodysplasia Is a True Developmental hereditary disorder Inferred relationship Some
Singleton-Merten syndrome Is a True Developmental hereditary disorder Inferred relationship Some

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